NM_007294.4(BRCA1):c.5407G>A (p.Gly1803Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Aug 3, 2020
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000222986.6

Allele description [Variation Report for NM_007294.4(BRCA1):c.5407G>A (p.Gly1803Ser)]

NM_007294.4(BRCA1):c.5407G>A (p.Gly1803Ser)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5407G>A (p.Gly1803Ser)
HGVS:
  • NC_000017.11:g.43047703C>T
  • NG_005905.2:g.170281G>A
  • NM_001407571.1:c.5194G>A
  • NM_001407581.1:c.5473G>A
  • NM_001407582.1:c.5473G>A
  • NM_001407583.1:c.5470G>A
  • NM_001407585.1:c.5470G>A
  • NM_001407587.1:c.5470G>A
  • NM_001407590.1:c.5467G>A
  • NM_001407591.1:c.5467G>A
  • NM_001407593.1:c.5407G>A
  • NM_001407594.1:c.5407G>A
  • NM_001407596.1:c.5407G>A
  • NM_001407597.1:c.5407G>A
  • NM_001407598.1:c.5407G>A
  • NM_001407602.1:c.5407G>A
  • NM_001407603.1:c.5407G>A
  • NM_001407605.1:c.5407G>A
  • NM_001407610.1:c.5404G>A
  • NM_001407611.1:c.5404G>A
  • NM_001407612.1:c.5404G>A
  • NM_001407613.1:c.5404G>A
  • NM_001407614.1:c.5404G>A
  • NM_001407615.1:c.5404G>A
  • NM_001407616.1:c.5404G>A
  • NM_001407617.1:c.5404G>A
  • NM_001407618.1:c.5404G>A
  • NM_001407619.1:c.5404G>A
  • NM_001407620.1:c.5404G>A
  • NM_001407621.1:c.5404G>A
  • NM_001407622.1:c.5404G>A
  • NM_001407623.1:c.5404G>A
  • NM_001407624.1:c.5404G>A
  • NM_001407625.1:c.5404G>A
  • NM_001407626.1:c.5404G>A
  • NM_001407627.1:c.5401G>A
  • NM_001407628.1:c.5401G>A
  • NM_001407629.1:c.5401G>A
  • NM_001407630.1:c.5401G>A
  • NM_001407631.1:c.5401G>A
  • NM_001407632.1:c.5401G>A
  • NM_001407633.1:c.5401G>A
  • NM_001407634.1:c.5401G>A
  • NM_001407635.1:c.5401G>A
  • NM_001407636.1:c.5401G>A
  • NM_001407637.1:c.5401G>A
  • NM_001407638.1:c.5401G>A
  • NM_001407639.1:c.5401G>A
  • NM_001407640.1:c.5401G>A
  • NM_001407641.1:c.5401G>A
  • NM_001407642.1:c.5401G>A
  • NM_001407644.1:c.5398G>A
  • NM_001407645.1:c.5398G>A
  • NM_001407646.1:c.5395G>A
  • NM_001407647.1:c.5392G>A
  • NM_001407648.1:c.5350G>A
  • NM_001407649.1:c.5347G>A
  • NM_001407652.1:c.5329G>A
  • NM_001407653.1:c.5329G>A
  • NM_001407654.1:c.5329G>A
  • NM_001407655.1:c.5329G>A
  • NM_001407656.1:c.5326G>A
  • NM_001407657.1:c.5326G>A
  • NM_001407658.1:c.5326G>A
  • NM_001407659.1:c.5323G>A
  • NM_001407660.1:c.5323G>A
  • NM_001407661.1:c.5323G>A
  • NM_001407662.1:c.5323G>A
  • NM_001407663.1:c.5323G>A
  • NM_001407664.1:c.5284G>A
  • NM_001407665.1:c.5284G>A
  • NM_001407666.1:c.5284G>A
  • NM_001407667.1:c.5284G>A
  • NM_001407668.1:c.5284G>A
  • NM_001407669.1:c.5284G>A
  • NM_001407670.1:c.5281G>A
  • NM_001407671.1:c.5281G>A
  • NM_001407672.1:c.5281G>A
  • NM_001407673.1:c.5281G>A
  • NM_001407674.1:c.5281G>A
  • NM_001407675.1:c.5281G>A
  • NM_001407676.1:c.5281G>A
  • NM_001407677.1:c.5281G>A
  • NM_001407678.1:c.5281G>A
  • NM_001407679.1:c.5281G>A
  • NM_001407680.1:c.5281G>A
  • NM_001407681.1:c.5278G>A
  • NM_001407682.1:c.5278G>A
  • NM_001407683.1:c.5278G>A
  • NM_001407684.1:c.5278G>A
  • NM_001407685.1:c.5278G>A
  • NM_001407686.1:c.5278G>A
  • NM_001407687.1:c.5278G>A
  • NM_001407688.1:c.5278G>A
  • NM_001407689.1:c.5278G>A
  • NM_001407690.1:c.5275G>A
  • NM_001407691.1:c.5275G>A
  • NM_001407692.1:c.5266G>A
  • NM_001407694.1:c.5266G>A
  • NM_001407695.1:c.5266G>A
  • NM_001407696.1:c.5266G>A
  • NM_001407697.1:c.5266G>A
  • NM_001407698.1:c.5266G>A
  • NM_001407724.1:c.5266G>A
  • NM_001407725.1:c.5266G>A
  • NM_001407726.1:c.5266G>A
  • NM_001407727.1:c.5266G>A
  • NM_001407728.1:c.5266G>A
  • NM_001407729.1:c.5266G>A
  • NM_001407730.1:c.5266G>A
  • NM_001407731.1:c.5266G>A
  • NM_001407732.1:c.5263G>A
  • NM_001407733.1:c.5263G>A
  • NM_001407734.1:c.5263G>A
  • NM_001407735.1:c.5263G>A
  • NM_001407736.1:c.5263G>A
  • NM_001407737.1:c.5263G>A
  • NM_001407738.1:c.5263G>A
  • NM_001407739.1:c.5263G>A
  • NM_001407740.1:c.5263G>A
  • NM_001407741.1:c.5263G>A
  • NM_001407742.1:c.5263G>A
  • NM_001407743.1:c.5263G>A
  • NM_001407744.1:c.5263G>A
  • NM_001407745.1:c.5263G>A
  • NM_001407746.1:c.5263G>A
  • NM_001407747.1:c.5263G>A
  • NM_001407748.1:c.5263G>A
  • NM_001407749.1:c.5263G>A
  • NM_001407750.1:c.5263G>A
  • NM_001407751.1:c.5263G>A
  • NM_001407752.1:c.5263G>A
  • NM_001407838.1:c.5260G>A
  • NM_001407839.1:c.5260G>A
  • NM_001407841.1:c.5260G>A
  • NM_001407842.1:c.5260G>A
  • NM_001407843.1:c.5260G>A
  • NM_001407844.1:c.5260G>A
  • NM_001407845.1:c.5260G>A
  • NM_001407846.1:c.5260G>A
  • NM_001407847.1:c.5260G>A
  • NM_001407848.1:c.5260G>A
  • NM_001407849.1:c.5260G>A
  • NM_001407850.1:c.5260G>A
  • NM_001407851.1:c.5260G>A
  • NM_001407852.1:c.5260G>A
  • NM_001407853.1:c.5260G>A
  • NM_001407854.1:c.5333G>A
  • NM_001407858.1:c.5330G>A
  • NM_001407859.1:c.5330G>A
  • NM_001407860.1:c.5330G>A
  • NM_001407861.1:c.5327G>A
  • NM_001407862.1:c.5206G>A
  • NM_001407863.1:c.5203G>A
  • NM_001407874.1:c.5200G>A
  • NM_001407875.1:c.5200G>A
  • NM_001407879.1:c.5197G>A
  • NM_001407881.1:c.5197G>A
  • NM_001407882.1:c.5197G>A
  • NM_001407884.1:c.5197G>A
  • NM_001407885.1:c.5197G>A
  • NM_001407886.1:c.5197G>A
  • NM_001407887.1:c.5197G>A
  • NM_001407889.1:c.5197G>A
  • NM_001407894.1:c.5194G>A
  • NM_001407895.1:c.5194G>A
  • NM_001407896.1:c.5194G>A
  • NM_001407897.1:c.5194G>A
  • NM_001407898.1:c.5194G>A
  • NM_001407899.1:c.5194G>A
  • NM_001407900.1:c.5194G>A
  • NM_001407902.1:c.5194G>A
  • NM_001407904.1:c.5194G>A
  • NM_001407906.1:c.5194G>A
  • NM_001407907.1:c.5194G>A
  • NM_001407908.1:c.5194G>A
  • NM_001407909.1:c.5194G>A
  • NM_001407910.1:c.5194G>A
  • NM_001407915.1:c.5191G>A
  • NM_001407916.1:c.5191G>A
  • NM_001407917.1:c.5191G>A
  • NM_001407918.1:c.5191G>A
  • NM_001407919.1:c.5155G>A
  • NM_001407920.1:c.5143G>A
  • NM_001407921.1:c.5143G>A
  • NM_001407922.1:c.5143G>A
  • NM_001407923.1:c.5143G>A
  • NM_001407924.1:c.5143G>A
  • NM_001407925.1:c.5143G>A
  • NM_001407926.1:c.5143G>A
  • NM_001407927.1:c.5140G>A
  • NM_001407928.1:c.5140G>A
  • NM_001407929.1:c.5140G>A
  • NM_001407930.1:c.5140G>A
  • NM_001407931.1:c.5140G>A
  • NM_001407932.1:c.5140G>A
  • NM_001407933.1:c.5140G>A
  • NM_001407934.1:c.5137G>A
  • NM_001407935.1:c.5137G>A
  • NM_001407936.1:c.5137G>A
  • NM_001407937.1:c.5210G>A
  • NM_001407938.1:c.5210G>A
  • NM_001407939.1:c.5207G>A
  • NM_001407940.1:c.5207G>A
  • NM_001407941.1:c.5204G>A
  • NM_001407942.1:c.5192G>A
  • NM_001407943.1:c.5189G>A
  • NM_001407944.1:c.5189G>A
  • NM_001407945.1:c.5189G>A
  • NM_001407946.1:c.5074G>A
  • NM_001407947.1:c.5074G>A
  • NM_001407948.1:c.5074G>A
  • NM_001407949.1:c.5074G>A
  • NM_001407950.1:c.5071G>A
  • NM_001407951.1:c.5071G>A
  • NM_001407952.1:c.5071G>A
  • NM_001407953.1:c.5071G>A
  • NM_001407954.1:c.5071G>A
  • NM_001407955.1:c.5071G>A
  • NM_001407956.1:c.5068G>A
  • NM_001407957.1:c.5068G>A
  • NM_001407958.1:c.5068G>A
  • NM_001407959.1:c.5026G>A
  • NM_001407960.1:c.5023G>A
  • NM_001407962.1:c.5023G>A
  • NM_001407963.1:c.5020G>A
  • NM_001407964.1:c.4945G>A
  • NM_001407965.1:c.4900G>A
  • NM_001407966.1:c.4519G>A
  • NM_001407967.1:c.4516G>A
  • NM_001407968.1:c.2803G>A
  • NM_001407969.1:c.2800G>A
  • NM_001407970.1:c.2164G>A
  • NM_001407971.1:c.2164G>A
  • NM_001407972.1:c.2161G>A
  • NM_001407973.1:c.2098G>A
  • NM_001407974.1:c.2098G>A
  • NM_001407975.1:c.2098G>A
  • NM_001407976.1:c.2098G>A
  • NM_001407977.1:c.2098G>A
  • NM_001407978.1:c.2098G>A
  • NM_001407979.1:c.2095G>A
  • NM_001407980.1:c.2095G>A
  • NM_001407981.1:c.2095G>A
  • NM_001407982.1:c.2095G>A
  • NM_001407983.1:c.2095G>A
  • NM_001407984.1:c.2095G>A
  • NM_001407985.1:c.2095G>A
  • NM_001407986.1:c.2095G>A
  • NM_001407990.1:c.2095G>A
  • NM_001407991.1:c.2095G>A
  • NM_001407992.1:c.2095G>A
  • NM_001407993.1:c.2095G>A
  • NM_001408392.1:c.2092G>A
  • NM_001408396.1:c.2092G>A
  • NM_001408397.1:c.2092G>A
  • NM_001408398.1:c.2092G>A
  • NM_001408399.1:c.2092G>A
  • NM_001408400.1:c.2092G>A
  • NM_001408401.1:c.2092G>A
  • NM_001408402.1:c.2092G>A
  • NM_001408403.1:c.2092G>A
  • NM_001408404.1:c.2092G>A
  • NM_001408406.1:c.2089G>A
  • NM_001408407.1:c.2089G>A
  • NM_001408408.1:c.2089G>A
  • NM_001408409.1:c.2086G>A
  • NM_001408410.1:c.2023G>A
  • NM_001408411.1:c.2020G>A
  • NM_001408412.1:c.2017G>A
  • NM_001408413.1:c.2017G>A
  • NM_001408414.1:c.2017G>A
  • NM_001408415.1:c.2017G>A
  • NM_001408416.1:c.2017G>A
  • NM_001408418.1:c.1981G>A
  • NM_001408419.1:c.1981G>A
  • NM_001408420.1:c.1981G>A
  • NM_001408421.1:c.1978G>A
  • NM_001408422.1:c.1978G>A
  • NM_001408423.1:c.1978G>A
  • NM_001408424.1:c.1978G>A
  • NM_001408425.1:c.1975G>A
  • NM_001408426.1:c.1975G>A
  • NM_001408427.1:c.1975G>A
  • NM_001408428.1:c.1975G>A
  • NM_001408429.1:c.1975G>A
  • NM_001408430.1:c.1975G>A
  • NM_001408431.1:c.1975G>A
  • NM_001408432.1:c.1972G>A
  • NM_001408433.1:c.1972G>A
  • NM_001408434.1:c.1972G>A
  • NM_001408435.1:c.1972G>A
  • NM_001408436.1:c.1972G>A
  • NM_001408437.1:c.1972G>A
  • NM_001408438.1:c.1972G>A
  • NM_001408439.1:c.1972G>A
  • NM_001408440.1:c.1972G>A
  • NM_001408441.1:c.1972G>A
  • NM_001408442.1:c.1972G>A
  • NM_001408443.1:c.1972G>A
  • NM_001408444.1:c.1972G>A
  • NM_001408445.1:c.1969G>A
  • NM_001408446.1:c.1969G>A
  • NM_001408447.1:c.1969G>A
  • NM_001408448.1:c.1969G>A
  • NM_001408450.1:c.1969G>A
  • NM_001408451.1:c.1963G>A
  • NM_001408452.1:c.1957G>A
  • NM_001408453.1:c.1957G>A
  • NM_001408454.1:c.1957G>A
  • NM_001408455.1:c.1957G>A
  • NM_001408456.1:c.1957G>A
  • NM_001408457.1:c.1957G>A
  • NM_001408458.1:c.1954G>A
  • NM_001408459.1:c.1954G>A
  • NM_001408460.1:c.1954G>A
  • NM_001408461.1:c.1954G>A
  • NM_001408462.1:c.1954G>A
  • NM_001408463.1:c.1954G>A
  • NM_001408464.1:c.1954G>A
  • NM_001408465.1:c.1954G>A
  • NM_001408466.1:c.1954G>A
  • NM_001408467.1:c.1954G>A
  • NM_001408468.1:c.1951G>A
  • NM_001408469.1:c.1951G>A
  • NM_001408470.1:c.1951G>A
  • NM_001408472.1:c.2021G>A
  • NM_001408473.1:c.2018G>A
  • NM_001408474.1:c.1897G>A
  • NM_001408475.1:c.1894G>A
  • NM_001408476.1:c.1894G>A
  • NM_001408478.1:c.1888G>A
  • NM_001408479.1:c.1888G>A
  • NM_001408480.1:c.1888G>A
  • NM_001408481.1:c.1885G>A
  • NM_001408482.1:c.1885G>A
  • NM_001408483.1:c.1885G>A
  • NM_001408484.1:c.1885G>A
  • NM_001408485.1:c.1885G>A
  • NM_001408489.1:c.1885G>A
  • NM_001408490.1:c.1885G>A
  • NM_001408491.1:c.1885G>A
  • NM_001408492.1:c.1882G>A
  • NM_001408493.1:c.1882G>A
  • NM_001408494.1:c.1858G>A
  • NM_001408495.1:c.1852G>A
  • NM_001408496.1:c.1834G>A
  • NM_001408497.1:c.1834G>A
  • NM_001408498.1:c.1834G>A
  • NM_001408499.1:c.1834G>A
  • NM_001408500.1:c.1834G>A
  • NM_001408501.1:c.1834G>A
  • NM_001408502.1:c.1831G>A
  • NM_001408503.1:c.1831G>A
  • NM_001408504.1:c.1831G>A
  • NM_001408505.1:c.1828G>A
  • NM_001408506.1:c.1771G>A
  • NM_001408507.1:c.1768G>A
  • NM_001408508.1:c.1759G>A
  • NM_001408509.1:c.1756G>A
  • NM_001408510.1:c.1717G>A
  • NM_001408511.1:c.1714G>A
  • NM_001408512.1:c.1594G>A
  • NM_001408513.1:c.1567G>A
  • NM_001408514.1:c.1171G>A
  • NM_007294.4:c.5407G>AMANE SELECT
  • NM_007297.4:c.5266G>A
  • NM_007298.4:c.2095G>A
  • NM_007299.4:c.2021G>A
  • NM_007300.4:c.5470G>A
  • NM_007304.2:c.2095G>A
  • NP_001394500.1:p.Gly1732Ser
  • NP_001394510.1:p.Gly1825Ser
  • NP_001394511.1:p.Gly1825Ser
  • NP_001394512.1:p.Gly1824Ser
  • NP_001394514.1:p.Gly1824Ser
  • NP_001394516.1:p.Gly1824Ser
  • NP_001394519.1:p.Gly1823Ser
  • NP_001394520.1:p.Gly1823Ser
  • NP_001394522.1:p.Gly1803Ser
  • NP_001394523.1:p.Gly1803Ser
  • NP_001394525.1:p.Gly1803Ser
  • NP_001394526.1:p.Gly1803Ser
  • NP_001394527.1:p.Gly1803Ser
  • NP_001394531.1:p.Gly1803Ser
  • NP_001394532.1:p.Gly1803Ser
  • NP_001394534.1:p.Gly1803Ser
  • NP_001394539.1:p.Gly1802Ser
  • NP_001394540.1:p.Gly1802Ser
  • NP_001394541.1:p.Gly1802Ser
  • NP_001394542.1:p.Gly1802Ser
  • NP_001394543.1:p.Gly1802Ser
  • NP_001394544.1:p.Gly1802Ser
  • NP_001394545.1:p.Gly1802Ser
  • NP_001394546.1:p.Gly1802Ser
  • NP_001394547.1:p.Gly1802Ser
  • NP_001394548.1:p.Gly1802Ser
  • NP_001394549.1:p.Gly1802Ser
  • NP_001394550.1:p.Gly1802Ser
  • NP_001394551.1:p.Gly1802Ser
  • NP_001394552.1:p.Gly1802Ser
  • NP_001394553.1:p.Gly1802Ser
  • NP_001394554.1:p.Gly1802Ser
  • NP_001394555.1:p.Gly1802Ser
  • NP_001394556.1:p.Gly1801Ser
  • NP_001394557.1:p.Gly1801Ser
  • NP_001394558.1:p.Gly1801Ser
  • NP_001394559.1:p.Gly1801Ser
  • NP_001394560.1:p.Gly1801Ser
  • NP_001394561.1:p.Gly1801Ser
  • NP_001394562.1:p.Gly1801Ser
  • NP_001394563.1:p.Gly1801Ser
  • NP_001394564.1:p.Gly1801Ser
  • NP_001394565.1:p.Gly1801Ser
  • NP_001394566.1:p.Gly1801Ser
  • NP_001394567.1:p.Gly1801Ser
  • NP_001394568.1:p.Gly1801Ser
  • NP_001394569.1:p.Gly1801Ser
  • NP_001394570.1:p.Gly1801Ser
  • NP_001394571.1:p.Gly1801Ser
  • NP_001394573.1:p.Gly1800Ser
  • NP_001394574.1:p.Gly1800Ser
  • NP_001394575.1:p.Gly1799Ser
  • NP_001394576.1:p.Gly1798Ser
  • NP_001394577.1:p.Gly1784Ser
  • NP_001394578.1:p.Gly1783Ser
  • NP_001394581.1:p.Gly1777Ser
  • NP_001394582.1:p.Gly1777Ser
  • NP_001394583.1:p.Gly1777Ser
  • NP_001394584.1:p.Gly1777Ser
  • NP_001394585.1:p.Gly1776Ser
  • NP_001394586.1:p.Gly1776Ser
  • NP_001394587.1:p.Gly1776Ser
  • NP_001394588.1:p.Gly1775Ser
  • NP_001394589.1:p.Gly1775Ser
  • NP_001394590.1:p.Gly1775Ser
  • NP_001394591.1:p.Gly1775Ser
  • NP_001394592.1:p.Gly1775Ser
  • NP_001394593.1:p.Gly1762Ser
  • NP_001394594.1:p.Gly1762Ser
  • NP_001394595.1:p.Gly1762Ser
  • NP_001394596.1:p.Gly1762Ser
  • NP_001394597.1:p.Gly1762Ser
  • NP_001394598.1:p.Gly1762Ser
  • NP_001394599.1:p.Gly1761Ser
  • NP_001394600.1:p.Gly1761Ser
  • NP_001394601.1:p.Gly1761Ser
  • NP_001394602.1:p.Gly1761Ser
  • NP_001394603.1:p.Gly1761Ser
  • NP_001394604.1:p.Gly1761Ser
  • NP_001394605.1:p.Gly1761Ser
  • NP_001394606.1:p.Gly1761Ser
  • NP_001394607.1:p.Gly1761Ser
  • NP_001394608.1:p.Gly1761Ser
  • NP_001394609.1:p.Gly1761Ser
  • NP_001394610.1:p.Gly1760Ser
  • NP_001394611.1:p.Gly1760Ser
  • NP_001394612.1:p.Gly1760Ser
  • NP_001394613.1:p.Gly1760Ser
  • NP_001394614.1:p.Gly1760Ser
  • NP_001394615.1:p.Gly1760Ser
  • NP_001394616.1:p.Gly1760Ser
  • NP_001394617.1:p.Gly1760Ser
  • NP_001394618.1:p.Gly1760Ser
  • NP_001394619.1:p.Gly1759Ser
  • NP_001394620.1:p.Gly1759Ser
  • NP_001394621.1:p.Gly1756Ser
  • NP_001394623.1:p.Gly1756Ser
  • NP_001394624.1:p.Gly1756Ser
  • NP_001394625.1:p.Gly1756Ser
  • NP_001394626.1:p.Gly1756Ser
  • NP_001394627.1:p.Gly1756Ser
  • NP_001394653.1:p.Gly1756Ser
  • NP_001394654.1:p.Gly1756Ser
  • NP_001394655.1:p.Gly1756Ser
  • NP_001394656.1:p.Gly1756Ser
  • NP_001394657.1:p.Gly1756Ser
  • NP_001394658.1:p.Gly1756Ser
  • NP_001394659.1:p.Gly1756Ser
  • NP_001394660.1:p.Gly1756Ser
  • NP_001394661.1:p.Gly1755Ser
  • NP_001394662.1:p.Gly1755Ser
  • NP_001394663.1:p.Gly1755Ser
  • NP_001394664.1:p.Gly1755Ser
  • NP_001394665.1:p.Gly1755Ser
  • NP_001394666.1:p.Gly1755Ser
  • NP_001394667.1:p.Gly1755Ser
  • NP_001394668.1:p.Gly1755Ser
  • NP_001394669.1:p.Gly1755Ser
  • NP_001394670.1:p.Gly1755Ser
  • NP_001394671.1:p.Gly1755Ser
  • NP_001394672.1:p.Gly1755Ser
  • NP_001394673.1:p.Gly1755Ser
  • NP_001394674.1:p.Gly1755Ser
  • NP_001394675.1:p.Gly1755Ser
  • NP_001394676.1:p.Gly1755Ser
  • NP_001394677.1:p.Gly1755Ser
  • NP_001394678.1:p.Gly1755Ser
  • NP_001394679.1:p.Gly1755Ser
  • NP_001394680.1:p.Gly1755Ser
  • NP_001394681.1:p.Gly1755Ser
  • NP_001394767.1:p.Gly1754Ser
  • NP_001394768.1:p.Gly1754Ser
  • NP_001394770.1:p.Gly1754Ser
  • NP_001394771.1:p.Gly1754Ser
  • NP_001394772.1:p.Gly1754Ser
  • NP_001394773.1:p.Gly1754Ser
  • NP_001394774.1:p.Gly1754Ser
  • NP_001394775.1:p.Gly1754Ser
  • NP_001394776.1:p.Gly1754Ser
  • NP_001394777.1:p.Gly1754Ser
  • NP_001394778.1:p.Gly1754Ser
  • NP_001394779.1:p.Gly1754Ser
  • NP_001394780.1:p.Gly1754Ser
  • NP_001394781.1:p.Gly1754Ser
  • NP_001394782.1:p.Gly1754Ser
  • NP_001394783.1:p.Gly1778Glu
  • NP_001394787.1:p.Gly1777Glu
  • NP_001394788.1:p.Gly1777Glu
  • NP_001394789.1:p.Gly1777Glu
  • NP_001394790.1:p.Gly1776Glu
  • NP_001394791.1:p.Gly1736Ser
  • NP_001394792.1:p.Gly1735Ser
  • NP_001394803.1:p.Gly1734Ser
  • NP_001394804.1:p.Gly1734Ser
  • NP_001394808.1:p.Gly1733Ser
  • NP_001394810.1:p.Gly1733Ser
  • NP_001394811.1:p.Gly1733Ser
  • NP_001394813.1:p.Gly1733Ser
  • NP_001394814.1:p.Gly1733Ser
  • NP_001394815.1:p.Gly1733Ser
  • NP_001394816.1:p.Gly1733Ser
  • NP_001394818.1:p.Gly1733Ser
  • NP_001394823.1:p.Gly1732Ser
  • NP_001394824.1:p.Gly1732Ser
  • NP_001394825.1:p.Gly1732Ser
  • NP_001394826.1:p.Gly1732Ser
  • NP_001394827.1:p.Gly1732Ser
  • NP_001394828.1:p.Gly1732Ser
  • NP_001394829.1:p.Gly1732Ser
  • NP_001394831.1:p.Gly1732Ser
  • NP_001394833.1:p.Gly1732Ser
  • NP_001394835.1:p.Gly1732Ser
  • NP_001394836.1:p.Gly1732Ser
  • NP_001394837.1:p.Gly1732Ser
  • NP_001394838.1:p.Gly1732Ser
  • NP_001394839.1:p.Gly1732Ser
  • NP_001394844.1:p.Gly1731Ser
  • NP_001394845.1:p.Gly1731Ser
  • NP_001394846.1:p.Gly1731Ser
  • NP_001394847.1:p.Gly1731Ser
  • NP_001394848.1:p.Gly1719Ser
  • NP_001394849.1:p.Gly1715Ser
  • NP_001394850.1:p.Gly1715Ser
  • NP_001394851.1:p.Gly1715Ser
  • NP_001394852.1:p.Gly1715Ser
  • NP_001394853.1:p.Gly1715Ser
  • NP_001394854.1:p.Gly1715Ser
  • NP_001394855.1:p.Gly1715Ser
  • NP_001394856.1:p.Gly1714Ser
  • NP_001394857.1:p.Gly1714Ser
  • NP_001394858.1:p.Gly1714Ser
  • NP_001394859.1:p.Gly1714Ser
  • NP_001394860.1:p.Gly1714Ser
  • NP_001394861.1:p.Gly1714Ser
  • NP_001394862.1:p.Gly1714Ser
  • NP_001394863.1:p.Gly1713Ser
  • NP_001394864.1:p.Gly1713Ser
  • NP_001394865.1:p.Gly1713Ser
  • NP_001394866.1:p.Gly1737Glu
  • NP_001394867.1:p.Gly1737Glu
  • NP_001394868.1:p.Gly1736Glu
  • NP_001394869.1:p.Gly1736Glu
  • NP_001394870.1:p.Gly1735Glu
  • NP_001394871.1:p.Gly1731Glu
  • NP_001394872.1:p.Gly1730Glu
  • NP_001394873.1:p.Gly1730Glu
  • NP_001394874.1:p.Gly1730Glu
  • NP_001394875.1:p.Gly1692Ser
  • NP_001394876.1:p.Gly1692Ser
  • NP_001394877.1:p.Gly1692Ser
  • NP_001394878.1:p.Gly1692Ser
  • NP_001394879.1:p.Gly1691Ser
  • NP_001394880.1:p.Gly1691Ser
  • NP_001394881.1:p.Gly1691Ser
  • NP_001394882.1:p.Gly1691Ser
  • NP_001394883.1:p.Gly1691Ser
  • NP_001394884.1:p.Gly1691Ser
  • NP_001394885.1:p.Gly1690Ser
  • NP_001394886.1:p.Gly1690Ser
  • NP_001394887.1:p.Gly1690Ser
  • NP_001394888.1:p.Gly1676Ser
  • NP_001394889.1:p.Gly1675Ser
  • NP_001394891.1:p.Gly1675Ser
  • NP_001394892.1:p.Gly1674Ser
  • NP_001394893.1:p.Gly1649Ser
  • NP_001394894.1:p.Gly1634Ser
  • NP_001394895.1:p.Gly1507Ser
  • NP_001394896.1:p.Gly1506Ser
  • NP_001394897.1:p.Gly935Ser
  • NP_001394898.1:p.Gly934Ser
  • NP_001394899.1:p.Gly722Ser
  • NP_001394900.1:p.Gly722Ser
  • NP_001394901.1:p.Gly721Ser
  • NP_001394902.1:p.Gly700Ser
  • NP_001394903.1:p.Gly700Ser
  • NP_001394904.1:p.Gly700Ser
  • NP_001394905.1:p.Gly700Ser
  • NP_001394906.1:p.Gly700Ser
  • NP_001394907.1:p.Gly700Ser
  • NP_001394908.1:p.Gly699Ser
  • NP_001394909.1:p.Gly699Ser
  • NP_001394910.1:p.Gly699Ser
  • NP_001394911.1:p.Gly699Ser
  • NP_001394912.1:p.Gly699Ser
  • NP_001394913.1:p.Gly699Ser
  • NP_001394914.1:p.Gly699Ser
  • NP_001394915.1:p.Gly699Ser
  • NP_001394919.1:p.Gly699Ser
  • NP_001394920.1:p.Gly699Ser
  • NP_001394921.1:p.Gly699Ser
  • NP_001394922.1:p.Gly699Ser
  • NP_001395321.1:p.Gly698Ser
  • NP_001395325.1:p.Gly698Ser
  • NP_001395326.1:p.Gly698Ser
  • NP_001395327.1:p.Gly698Ser
  • NP_001395328.1:p.Gly698Ser
  • NP_001395329.1:p.Gly698Ser
  • NP_001395330.1:p.Gly698Ser
  • NP_001395331.1:p.Gly698Ser
  • NP_001395332.1:p.Gly698Ser
  • NP_001395333.1:p.Gly698Ser
  • NP_001395335.1:p.Gly697Ser
  • NP_001395336.1:p.Gly697Ser
  • NP_001395337.1:p.Gly697Ser
  • NP_001395338.1:p.Gly696Ser
  • NP_001395339.1:p.Gly675Ser
  • NP_001395340.1:p.Gly674Ser
  • NP_001395341.1:p.Gly673Ser
  • NP_001395342.1:p.Gly673Ser
  • NP_001395343.1:p.Gly673Ser
  • NP_001395344.1:p.Gly673Ser
  • NP_001395345.1:p.Gly673Ser
  • NP_001395347.1:p.Gly661Ser
  • NP_001395348.1:p.Gly661Ser
  • NP_001395349.1:p.Gly661Ser
  • NP_001395350.1:p.Gly660Ser
  • NP_001395351.1:p.Gly660Ser
  • NP_001395352.1:p.Gly660Ser
  • NP_001395353.1:p.Gly660Ser
  • NP_001395354.1:p.Gly659Ser
  • NP_001395355.1:p.Gly659Ser
  • NP_001395356.1:p.Gly659Ser
  • NP_001395357.1:p.Gly659Ser
  • NP_001395358.1:p.Gly659Ser
  • NP_001395359.1:p.Gly659Ser
  • NP_001395360.1:p.Gly659Ser
  • NP_001395361.1:p.Gly658Ser
  • NP_001395362.1:p.Gly658Ser
  • NP_001395363.1:p.Gly658Ser
  • NP_001395364.1:p.Gly658Ser
  • NP_001395365.1:p.Gly658Ser
  • NP_001395366.1:p.Gly658Ser
  • NP_001395367.1:p.Gly658Ser
  • NP_001395368.1:p.Gly658Ser
  • NP_001395369.1:p.Gly658Ser
  • NP_001395370.1:p.Gly658Ser
  • NP_001395371.1:p.Gly658Ser
  • NP_001395372.1:p.Gly658Ser
  • NP_001395373.1:p.Gly658Ser
  • NP_001395374.1:p.Gly657Ser
  • NP_001395375.1:p.Gly657Ser
  • NP_001395376.1:p.Gly657Ser
  • NP_001395377.1:p.Gly657Ser
  • NP_001395379.1:p.Gly657Ser
  • NP_001395380.1:p.Gly655Ser
  • NP_001395381.1:p.Gly653Ser
  • NP_001395382.1:p.Gly653Ser
  • NP_001395383.1:p.Gly653Ser
  • NP_001395384.1:p.Gly653Ser
  • NP_001395385.1:p.Gly653Ser
  • NP_001395386.1:p.Gly653Ser
  • NP_001395387.1:p.Gly652Ser
  • NP_001395388.1:p.Gly652Ser
  • NP_001395389.1:p.Gly652Ser
  • NP_001395390.1:p.Gly652Ser
  • NP_001395391.1:p.Gly652Ser
  • NP_001395392.1:p.Gly652Ser
  • NP_001395393.1:p.Gly652Ser
  • NP_001395394.1:p.Gly652Ser
  • NP_001395395.1:p.Gly652Ser
  • NP_001395396.1:p.Gly652Ser
  • NP_001395397.1:p.Gly651Ser
  • NP_001395398.1:p.Gly651Ser
  • NP_001395399.1:p.Gly651Ser
  • NP_001395401.1:p.Gly674Glu
  • NP_001395402.1:p.Gly673Glu
  • NP_001395403.1:p.Gly633Ser
  • NP_001395404.1:p.Gly632Ser
  • NP_001395405.1:p.Gly632Ser
  • NP_001395407.1:p.Gly630Ser
  • NP_001395408.1:p.Gly630Ser
  • NP_001395409.1:p.Gly630Ser
  • NP_001395410.1:p.Gly629Ser
  • NP_001395411.1:p.Gly629Ser
  • NP_001395412.1:p.Gly629Ser
  • NP_001395413.1:p.Gly629Ser
  • NP_001395414.1:p.Gly629Ser
  • NP_001395418.1:p.Gly629Ser
  • NP_001395419.1:p.Gly629Ser
  • NP_001395420.1:p.Gly629Ser
  • NP_001395421.1:p.Gly628Ser
  • NP_001395422.1:p.Gly628Ser
  • NP_001395423.1:p.Gly620Ser
  • NP_001395424.1:p.Gly618Ser
  • NP_001395425.1:p.Gly612Ser
  • NP_001395426.1:p.Gly612Ser
  • NP_001395427.1:p.Gly612Ser
  • NP_001395428.1:p.Gly612Ser
  • NP_001395429.1:p.Gly612Ser
  • NP_001395430.1:p.Gly612Ser
  • NP_001395431.1:p.Gly611Ser
  • NP_001395432.1:p.Gly611Ser
  • NP_001395433.1:p.Gly611Ser
  • NP_001395434.1:p.Gly610Ser
  • NP_001395435.1:p.Gly591Ser
  • NP_001395436.1:p.Gly590Ser
  • NP_001395437.1:p.Gly587Ser
  • NP_001395438.1:p.Gly586Ser
  • NP_001395439.1:p.Gly573Ser
  • NP_001395440.1:p.Gly572Ser
  • NP_001395441.1:p.Gly532Ser
  • NP_001395442.1:p.Gly523Ser
  • NP_001395443.1:p.Gly391Ser
  • NP_009225.1:p.Gly1803Ser
  • NP_009225.1:p.Gly1803Ser
  • NP_009228.2:p.Gly1756Ser
  • NP_009229.2:p.Gly699Ser
  • NP_009229.2:p.Gly699Ser
  • NP_009230.2:p.Gly674Glu
  • NP_009231.2:p.Gly1824Ser
  • NP_009235.2:p.Gly699Ser
  • LRG_292t1:c.5407G>A
  • LRG_292:g.170281G>A
  • LRG_292p1:p.Gly1803Ser
  • NC_000017.10:g.41199720C>T
  • NM_007294.3:c.5407G>A
  • NM_007298.3:c.2095G>A
  • NR_027676.2:n.5584G>A
Protein change:
G1506S
Links:
dbSNP: rs876659510
NCBI 1000 Genomes Browser:
rs876659510
Molecular consequence:
  • NM_001407571.1:c.5194G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5473G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5473G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5470G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5470G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5470G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5467G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5467G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5407G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5407G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5407G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5407G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5407G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5407G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5407G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5407G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5404G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5401G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5398G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5398G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5395G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5392G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.5347G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5329G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.5329G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.5329G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.5329G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.5326G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.5326G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.5326G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.5323G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.5323G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.5323G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.5323G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.5323G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.5281G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.5281G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.5281G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.5281G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.5281G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.5281G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.5281G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.5281G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.5281G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.5281G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.5281G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.5278G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.5278G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.5278G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.5278G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.5278G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.5278G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.5278G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.5278G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.5278G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.5275G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.5275G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.5266G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.5266G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.5266G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.5266G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.5266G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.5266G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.5266G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.5266G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.5266G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.5266G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.5266G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.5266G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.5266G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.5266G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.5263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.5260G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.5260G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.5260G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.5260G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.5260G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.5260G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.5260G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.5260G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.5260G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.5260G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.5260G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.5260G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.5260G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.5260G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.5260G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.5333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.5330G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.5330G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.5330G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.5327G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.5206G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.5203G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.5200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.5200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.5197G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.5197G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.5197G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.5197G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.5197G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.5197G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.5197G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.5197G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.5194G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.5194G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.5194G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.5194G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.5194G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.5194G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.5194G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.5194G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.5194G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.5194G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.5194G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.5194G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.5194G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.5194G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.5191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.5191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.5191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.5191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.5155G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.5143G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.5143G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.5143G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.5143G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.5143G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.5143G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.5143G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.5140G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.5140G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.5140G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.5140G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.5140G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.5140G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.5140G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.5137G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.5137G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.5137G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.5210G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.5210G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.5207G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.5207G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.5204G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.5192G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.5189G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.5189G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.5189G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.5074G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.5074G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.5074G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.5074G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.5071G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.5068G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.5026G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.5023G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.5023G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.5020G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4945G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4519G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4516G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2803G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2800G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.2164G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.2164G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.2161G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.2098G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.2098G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.2098G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.2098G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.2098G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.2098G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.2095G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.2095G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.2095G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.2095G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.2095G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.2095G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.2095G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.2095G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.2095G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.2095G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.2095G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.2095G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.2092G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.2092G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.2092G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.2092G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.2092G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.2092G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.2092G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.2092G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.2092G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.2092G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.2089G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.2089G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.2089G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.2086G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.2023G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.2020G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.2017G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.2017G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.2017G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.2017G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.2017G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1981G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1981G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1981G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1978G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1978G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1978G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1978G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1969G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1969G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1969G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1969G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1969G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1963G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1957G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1957G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1957G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1957G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1957G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1957G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1954G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1954G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1954G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1954G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1954G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1954G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1954G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1954G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1954G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1954G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1951G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1951G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1951G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.2021G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.2018G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1894G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1894G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1888G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1888G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1888G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1882G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1882G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1858G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1852G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1828G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1771G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1756G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1717G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1714G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1594G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1567G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.1171G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5407G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.5266G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.2095G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.2021G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5470G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.2095G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5584G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000276068Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 26, 2015) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV001735425Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 3, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations.

Wagner T, Stoppa-Lyonnet D, Fleischmann E, Muhr D, Pagès S, Sandberg T, Caux V, Moeslinger R, Langbauer G, Borg A, Oefner P.

Genomics. 1999 Dec 15;62(3):369-76.

PubMed [citation]
PMID:
10644434

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000276068.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.G1803S variant (also known as c.5407G>A) is located in coding exon 21 of the BRCA1 gene. The glycine at codon 1803 is replaced by serine, an amino acid with similar properties. This change occurs in the first base pair of coding exon 21. One functional study found that this nucleotide substitution is functional in a high-throughput, genome editing, haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). A close match alteration, BRCA2 c.5408G>C (p.G1803A) is also functional in the cell survival assay, protein folding, binding activity and binding specificity, but has compromised transactivation activity (Lee MS et al. Cancer Res. 2010 Jun;70:4880-90; Fernandes VC et al. J. Biol. Chem.. 2019 04;294:5980-5992). This close match, which is expected to behave similarly to this variant, has also been described as having a splice defect (Wappenschmidt B et al. PLoS ONE. 2012 Dec;7:e50800; Ahlborn LB et al. Breast Cancer Res. Treat. 2015 Apr;150:289-98). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is conflicting at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Color Diagnostics, LLC DBA Color Health, SCV001735425.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This missense variant replaces glycine with serine at codon 1803 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024