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NM_007294.4(BRCA1):c.4220T>C (p.Leu1407Pro) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 27, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001326890.8

Allele description [Variation Report for NM_007294.4(BRCA1):c.4220T>C (p.Leu1407Pro)]

NM_007294.4(BRCA1):c.4220T>C (p.Leu1407Pro)

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.4220T>C (p.Leu1407Pro)
HGVS:
  • NC_000017.11:g.43082541A>G
  • NG_005905.2:g.135443T>C
  • NM_001407571.1:c.4007T>C
  • NM_001407581.1:c.4220T>C
  • NM_001407582.1:c.4220T>C
  • NM_001407583.1:c.4220T>C
  • NM_001407585.1:c.4220T>C
  • NM_001407587.1:c.4217T>C
  • NM_001407590.1:c.4217T>C
  • NM_001407591.1:c.4217T>C
  • NM_001407593.1:c.4220T>C
  • NM_001407594.1:c.4220T>C
  • NM_001407596.1:c.4220T>C
  • NM_001407597.1:c.4220T>C
  • NM_001407598.1:c.4220T>C
  • NM_001407602.1:c.4220T>C
  • NM_001407603.1:c.4220T>C
  • NM_001407605.1:c.4220T>C
  • NM_001407610.1:c.4217T>C
  • NM_001407611.1:c.4217T>C
  • NM_001407612.1:c.4217T>C
  • NM_001407613.1:c.4217T>C
  • NM_001407614.1:c.4217T>C
  • NM_001407615.1:c.4217T>C
  • NM_001407616.1:c.4220T>C
  • NM_001407617.1:c.4220T>C
  • NM_001407618.1:c.4220T>C
  • NM_001407619.1:c.4220T>C
  • NM_001407620.1:c.4220T>C
  • NM_001407621.1:c.4220T>C
  • NM_001407622.1:c.4220T>C
  • NM_001407623.1:c.4220T>C
  • NM_001407624.1:c.4217T>C
  • NM_001407625.1:c.4217T>C
  • NM_001407626.1:c.4217T>C
  • NM_001407627.1:c.4214T>C
  • NM_001407628.1:c.4214T>C
  • NM_001407629.1:c.4214T>C
  • NM_001407630.1:c.4214T>C
  • NM_001407631.1:c.4214T>C
  • NM_001407632.1:c.4214T>C
  • NM_001407633.1:c.4217T>C
  • NM_001407634.1:c.4217T>C
  • NM_001407635.1:c.4217T>C
  • NM_001407636.1:c.4217T>C
  • NM_001407637.1:c.4217T>C
  • NM_001407638.1:c.4217T>C
  • NM_001407639.1:c.4217T>C
  • NM_001407640.1:c.4217T>C
  • NM_001407641.1:c.4217T>C
  • NM_001407642.1:c.4217T>C
  • NM_001407644.1:c.4214T>C
  • NM_001407645.1:c.4214T>C
  • NM_001407646.1:c.4208T>C
  • NM_001407647.1:c.4208T>C
  • NM_001407648.1:c.4097T>C
  • NM_001407649.1:c.4094T>C
  • NM_001407652.1:c.4220T>C
  • NM_001407653.1:c.4142T>C
  • NM_001407654.1:c.4142T>C
  • NM_001407655.1:c.4142T>C
  • NM_001407656.1:c.4139T>C
  • NM_001407657.1:c.4142T>C
  • NM_001407658.1:c.4142T>C
  • NM_001407659.1:c.4136T>C
  • NM_001407660.1:c.4136T>C
  • NM_001407661.1:c.4139T>C
  • NM_001407662.1:c.4139T>C
  • NM_001407663.1:c.4139T>C
  • NM_001407664.1:c.4097T>C
  • NM_001407665.1:c.4097T>C
  • NM_001407666.1:c.4097T>C
  • NM_001407667.1:c.4097T>C
  • NM_001407668.1:c.4097T>C
  • NM_001407669.1:c.4097T>C
  • NM_001407670.1:c.4094T>C
  • NM_001407671.1:c.4094T>C
  • NM_001407672.1:c.4094T>C
  • NM_001407673.1:c.4094T>C
  • NM_001407674.1:c.4094T>C
  • NM_001407675.1:c.4094T>C
  • NM_001407676.1:c.4094T>C
  • NM_001407677.1:c.4097T>C
  • NM_001407678.1:c.4097T>C
  • NM_001407679.1:c.4097T>C
  • NM_001407680.1:c.4097T>C
  • NM_001407681.1:c.4094T>C
  • NM_001407682.1:c.4094T>C
  • NM_001407683.1:c.4094T>C
  • NM_001407684.1:c.4220T>C
  • NM_001407685.1:c.4091T>C
  • NM_001407686.1:c.4091T>C
  • NM_001407687.1:c.4091T>C
  • NM_001407688.1:c.4094T>C
  • NM_001407689.1:c.4094T>C
  • NM_001407690.1:c.4091T>C
  • NM_001407691.1:c.4091T>C
  • NM_001407692.1:c.4079T>C
  • NM_001407694.1:c.4079T>C
  • NM_001407695.1:c.4079T>C
  • NM_001407696.1:c.4079T>C
  • NM_001407697.1:c.4079T>C
  • NM_001407698.1:c.4079T>C
  • NM_001407724.1:c.4079T>C
  • NM_001407725.1:c.4079T>C
  • NM_001407726.1:c.4079T>C
  • NM_001407727.1:c.4079T>C
  • NM_001407728.1:c.4079T>C
  • NM_001407729.1:c.4079T>C
  • NM_001407730.1:c.4079T>C
  • NM_001407731.1:c.4079T>C
  • NM_001407732.1:c.4079T>C
  • NM_001407733.1:c.4079T>C
  • NM_001407734.1:c.4079T>C
  • NM_001407735.1:c.4079T>C
  • NM_001407736.1:c.4079T>C
  • NM_001407737.1:c.4079T>C
  • NM_001407738.1:c.4079T>C
  • NM_001407739.1:c.4079T>C
  • NM_001407740.1:c.4076T>C
  • NM_001407741.1:c.4076T>C
  • NM_001407742.1:c.4076T>C
  • NM_001407743.1:c.4076T>C
  • NM_001407744.1:c.4076T>C
  • NM_001407745.1:c.4076T>C
  • NM_001407746.1:c.4076T>C
  • NM_001407747.1:c.4076T>C
  • NM_001407748.1:c.4076T>C
  • NM_001407749.1:c.4076T>C
  • NM_001407750.1:c.4076T>C
  • NM_001407751.1:c.4076T>C
  • NM_001407752.1:c.4076T>C
  • NM_001407838.1:c.4076T>C
  • NM_001407839.1:c.4076T>C
  • NM_001407841.1:c.4076T>C
  • NM_001407842.1:c.4076T>C
  • NM_001407843.1:c.4076T>C
  • NM_001407844.1:c.4076T>C
  • NM_001407845.1:c.4076T>C
  • NM_001407846.1:c.4076T>C
  • NM_001407847.1:c.4073T>C
  • NM_001407848.1:c.4073T>C
  • NM_001407849.1:c.4073T>C
  • NM_001407850.1:c.4076T>C
  • NM_001407851.1:c.4076T>C
  • NM_001407852.1:c.4076T>C
  • NM_001407853.1:c.4007T>C
  • NM_001407854.1:c.4220T>C
  • NM_001407858.1:c.4220T>C
  • NM_001407859.1:c.4220T>C
  • NM_001407860.1:c.4217T>C
  • NM_001407861.1:c.4217T>C
  • NM_001407862.1:c.4019T>C
  • NM_001407863.1:c.4097T>C
  • NM_001407874.1:c.4016T>C
  • NM_001407875.1:c.4016T>C
  • NM_001407879.1:c.4010T>C
  • NM_001407881.1:c.4010T>C
  • NM_001407882.1:c.4010T>C
  • NM_001407884.1:c.4010T>C
  • NM_001407885.1:c.4010T>C
  • NM_001407886.1:c.4010T>C
  • NM_001407887.1:c.4010T>C
  • NM_001407889.1:c.4010T>C
  • NM_001407894.1:c.4007T>C
  • NM_001407895.1:c.4007T>C
  • NM_001407896.1:c.4007T>C
  • NM_001407897.1:c.4007T>C
  • NM_001407898.1:c.4007T>C
  • NM_001407899.1:c.4007T>C
  • NM_001407900.1:c.4010T>C
  • NM_001407902.1:c.4010T>C
  • NM_001407904.1:c.4010T>C
  • NM_001407906.1:c.4010T>C
  • NM_001407907.1:c.4007T>C
  • NM_001407908.1:c.4007T>C
  • NM_001407909.1:c.4007T>C
  • NM_001407910.1:c.4007T>C
  • NM_001407915.1:c.4004T>C
  • NM_001407916.1:c.4007T>C
  • NM_001407917.1:c.4007T>C
  • NM_001407918.1:c.4007T>C
  • NM_001407919.1:c.4097T>C
  • NM_001407920.1:c.3956T>C
  • NM_001407921.1:c.3956T>C
  • NM_001407922.1:c.3956T>C
  • NM_001407923.1:c.3956T>C
  • NM_001407924.1:c.3956T>C
  • NM_001407925.1:c.3956T>C
  • NM_001407926.1:c.3956T>C
  • NM_001407927.1:c.3956T>C
  • NM_001407928.1:c.3956T>C
  • NM_001407929.1:c.3956T>C
  • NM_001407930.1:c.3953T>C
  • NM_001407931.1:c.3953T>C
  • NM_001407932.1:c.3953T>C
  • NM_001407933.1:c.3953T>C
  • NM_001407934.1:c.3950T>C
  • NM_001407935.1:c.3953T>C
  • NM_001407936.1:c.3953T>C
  • NM_001407937.1:c.4097T>C
  • NM_001407938.1:c.4097T>C
  • NM_001407939.1:c.4097T>C
  • NM_001407940.1:c.4094T>C
  • NM_001407941.1:c.4094T>C
  • NM_001407942.1:c.4079T>C
  • NM_001407943.1:c.4076T>C
  • NM_001407944.1:c.4079T>C
  • NM_001407945.1:c.4079T>C
  • NM_001407946.1:c.3887T>C
  • NM_001407947.1:c.3887T>C
  • NM_001407948.1:c.3887T>C
  • NM_001407949.1:c.3887T>C
  • NM_001407950.1:c.3887T>C
  • NM_001407951.1:c.3887T>C
  • NM_001407952.1:c.3884T>C
  • NM_001407953.1:c.3884T>C
  • NM_001407954.1:c.3884T>C
  • NM_001407955.1:c.3884T>C
  • NM_001407956.1:c.3881T>C
  • NM_001407957.1:c.3884T>C
  • NM_001407958.1:c.3884T>C
  • NM_001407959.1:c.3839T>C
  • NM_001407960.1:c.3839T>C
  • NM_001407962.1:c.3836T>C
  • NM_001407963.1:c.3836T>C
  • NM_001407964.1:c.4076T>C
  • NM_001407965.1:c.3713T>C
  • NM_001407966.1:c.3332T>C
  • NM_001407967.1:c.3332T>C
  • NM_001407968.1:c.1616T>C
  • NM_001407969.1:c.1613T>C
  • NM_001407970.1:c.911T>C
  • NM_001407971.1:c.911T>C
  • NM_001407972.1:c.908T>C
  • NM_001407973.1:c.911T>C
  • NM_001407974.1:c.911T>C
  • NM_001407975.1:c.911T>C
  • NM_001407976.1:c.911T>C
  • NM_001407977.1:c.911T>C
  • NM_001407978.1:c.911T>C
  • NM_001407979.1:c.908T>C
  • NM_001407980.1:c.908T>C
  • NM_001407981.1:c.908T>C
  • NM_001407982.1:c.908T>C
  • NM_001407983.1:c.908T>C
  • NM_001407984.1:c.908T>C
  • NM_001407985.1:c.908T>C
  • NM_001407986.1:c.908T>C
  • NM_001407990.1:c.908T>C
  • NM_001407991.1:c.908T>C
  • NM_001407992.1:c.908T>C
  • NM_001407993.1:c.911T>C
  • NM_001408392.1:c.908T>C
  • NM_001408396.1:c.908T>C
  • NM_001408397.1:c.908T>C
  • NM_001408398.1:c.908T>C
  • NM_001408399.1:c.908T>C
  • NM_001408400.1:c.905T>C
  • NM_001408401.1:c.905T>C
  • NM_001408402.1:c.905T>C
  • NM_001408403.1:c.908T>C
  • NM_001408404.1:c.908T>C
  • NM_001408406.1:c.902T>C
  • NM_001408407.1:c.905T>C
  • NM_001408408.1:c.902T>C
  • NM_001408409.1:c.833T>C
  • NM_001408410.1:c.770T>C
  • NM_001408411.1:c.833T>C
  • NM_001408412.1:c.833T>C
  • NM_001408413.1:c.830T>C
  • NM_001408414.1:c.833T>C
  • NM_001408415.1:c.833T>C
  • NM_001408416.1:c.830T>C
  • NM_001408418.1:c.794T>C
  • NM_001408419.1:c.794T>C
  • NM_001408420.1:c.794T>C
  • NM_001408421.1:c.791T>C
  • NM_001408422.1:c.794T>C
  • NM_001408423.1:c.794T>C
  • NM_001408424.1:c.791T>C
  • NM_001408425.1:c.788T>C
  • NM_001408426.1:c.788T>C
  • NM_001408427.1:c.788T>C
  • NM_001408428.1:c.788T>C
  • NM_001408429.1:c.788T>C
  • NM_001408430.1:c.788T>C
  • NM_001408431.1:c.791T>C
  • NM_001408432.1:c.785T>C
  • NM_001408433.1:c.785T>C
  • NM_001408434.1:c.785T>C
  • NM_001408435.1:c.785T>C
  • NM_001408436.1:c.788T>C
  • NM_001408437.1:c.788T>C
  • NM_001408438.1:c.788T>C
  • NM_001408439.1:c.788T>C
  • NM_001408440.1:c.788T>C
  • NM_001408441.1:c.785T>C
  • NM_001408442.1:c.785T>C
  • NM_001408443.1:c.785T>C
  • NM_001408444.1:c.785T>C
  • NM_001408445.1:c.785T>C
  • NM_001408446.1:c.785T>C
  • NM_001408447.1:c.785T>C
  • NM_001408448.1:c.785T>C
  • NM_001408450.1:c.785T>C
  • NM_001408451.1:c.776T>C
  • NM_001408452.1:c.770T>C
  • NM_001408453.1:c.770T>C
  • NM_001408454.1:c.770T>C
  • NM_001408455.1:c.770T>C
  • NM_001408456.1:c.770T>C
  • NM_001408457.1:c.770T>C
  • NM_001408458.1:c.770T>C
  • NM_001408459.1:c.770T>C
  • NM_001408460.1:c.770T>C
  • NM_001408461.1:c.770T>C
  • NM_001408462.1:c.767T>C
  • NM_001408463.1:c.767T>C
  • NM_001408464.1:c.767T>C
  • NM_001408465.1:c.767T>C
  • NM_001408466.1:c.767T>C
  • NM_001408467.1:c.767T>C
  • NM_001408468.1:c.767T>C
  • NM_001408469.1:c.767T>C
  • NM_001408470.1:c.764T>C
  • NM_001408472.1:c.908T>C
  • NM_001408473.1:c.908T>C
  • NM_001408474.1:c.710T>C
  • NM_001408475.1:c.707T>C
  • NM_001408476.1:c.710T>C
  • NM_001408478.1:c.701T>C
  • NM_001408479.1:c.701T>C
  • NM_001408480.1:c.701T>C
  • NM_001408481.1:c.701T>C
  • NM_001408482.1:c.701T>C
  • NM_001408483.1:c.701T>C
  • NM_001408484.1:c.701T>C
  • NM_001408485.1:c.701T>C
  • NM_001408489.1:c.698T>C
  • NM_001408490.1:c.698T>C
  • NM_001408491.1:c.698T>C
  • NM_001408492.1:c.698T>C
  • NM_001408493.1:c.698T>C
  • NM_001408494.1:c.671T>C
  • NM_001408495.1:c.668T>C
  • NM_001408496.1:c.647T>C
  • NM_001408497.1:c.647T>C
  • NM_001408498.1:c.647T>C
  • NM_001408499.1:c.647T>C
  • NM_001408500.1:c.647T>C
  • NM_001408501.1:c.647T>C
  • NM_001408502.1:c.578T>C
  • NM_001408503.1:c.644T>C
  • NM_001408504.1:c.644T>C
  • NM_001408505.1:c.644T>C
  • NM_001408506.1:c.584T>C
  • NM_001408507.1:c.581T>C
  • NM_001408508.1:c.572T>C
  • NM_001408509.1:c.572T>C
  • NM_001408510.1:c.530T>C
  • NM_001408511.1:c.527T>C
  • NM_001408512.1:c.407T>C
  • NM_001408513.1:c.698T>C
  • NM_001408514.1:c.701T>C
  • NM_007294.4:c.4220T>CMANE SELECT
  • NM_007297.4:c.4079T>C
  • NM_007298.4:c.911T>C
  • NM_007299.4:c.911T>C
  • NM_007300.4:c.4220T>C
  • NM_007304.2:c.911T>C
  • NP_001394500.1:p.Leu1336Pro
  • NP_001394510.1:p.Leu1407Pro
  • NP_001394511.1:p.Leu1407Pro
  • NP_001394512.1:p.Leu1407Pro
  • NP_001394514.1:p.Leu1407Pro
  • NP_001394516.1:p.Leu1406Pro
  • NP_001394519.1:p.Leu1406Pro
  • NP_001394520.1:p.Leu1406Pro
  • NP_001394522.1:p.Leu1407Pro
  • NP_001394523.1:p.Leu1407Pro
  • NP_001394525.1:p.Leu1407Pro
  • NP_001394526.1:p.Leu1407Pro
  • NP_001394527.1:p.Leu1407Pro
  • NP_001394531.1:p.Leu1407Pro
  • NP_001394532.1:p.Leu1407Pro
  • NP_001394534.1:p.Leu1407Pro
  • NP_001394539.1:p.Leu1406Pro
  • NP_001394540.1:p.Leu1406Pro
  • NP_001394541.1:p.Leu1406Pro
  • NP_001394542.1:p.Leu1406Pro
  • NP_001394543.1:p.Leu1406Pro
  • NP_001394544.1:p.Leu1406Pro
  • NP_001394545.1:p.Leu1407Pro
  • NP_001394546.1:p.Leu1407Pro
  • NP_001394547.1:p.Leu1407Pro
  • NP_001394548.1:p.Leu1407Pro
  • NP_001394549.1:p.Leu1407Pro
  • NP_001394550.1:p.Leu1407Pro
  • NP_001394551.1:p.Leu1407Pro
  • NP_001394552.1:p.Leu1407Pro
  • NP_001394553.1:p.Leu1406Pro
  • NP_001394554.1:p.Leu1406Pro
  • NP_001394555.1:p.Leu1406Pro
  • NP_001394556.1:p.Leu1405Pro
  • NP_001394557.1:p.Leu1405Pro
  • NP_001394558.1:p.Leu1405Pro
  • NP_001394559.1:p.Leu1405Pro
  • NP_001394560.1:p.Leu1405Pro
  • NP_001394561.1:p.Leu1405Pro
  • NP_001394562.1:p.Leu1406Pro
  • NP_001394563.1:p.Leu1406Pro
  • NP_001394564.1:p.Leu1406Pro
  • NP_001394565.1:p.Leu1406Pro
  • NP_001394566.1:p.Leu1406Pro
  • NP_001394567.1:p.Leu1406Pro
  • NP_001394568.1:p.Leu1406Pro
  • NP_001394569.1:p.Leu1406Pro
  • NP_001394570.1:p.Leu1406Pro
  • NP_001394571.1:p.Leu1406Pro
  • NP_001394573.1:p.Leu1405Pro
  • NP_001394574.1:p.Leu1405Pro
  • NP_001394575.1:p.Leu1403Pro
  • NP_001394576.1:p.Leu1403Pro
  • NP_001394577.1:p.Leu1366Pro
  • NP_001394578.1:p.Leu1365Pro
  • NP_001394581.1:p.Leu1407Pro
  • NP_001394582.1:p.Leu1381Pro
  • NP_001394583.1:p.Leu1381Pro
  • NP_001394584.1:p.Leu1381Pro
  • NP_001394585.1:p.Leu1380Pro
  • NP_001394586.1:p.Leu1381Pro
  • NP_001394587.1:p.Leu1381Pro
  • NP_001394588.1:p.Leu1379Pro
  • NP_001394589.1:p.Leu1379Pro
  • NP_001394590.1:p.Leu1380Pro
  • NP_001394591.1:p.Leu1380Pro
  • NP_001394592.1:p.Leu1380Pro
  • NP_001394593.1:p.Leu1366Pro
  • NP_001394594.1:p.Leu1366Pro
  • NP_001394595.1:p.Leu1366Pro
  • NP_001394596.1:p.Leu1366Pro
  • NP_001394597.1:p.Leu1366Pro
  • NP_001394598.1:p.Leu1366Pro
  • NP_001394599.1:p.Leu1365Pro
  • NP_001394600.1:p.Leu1365Pro
  • NP_001394601.1:p.Leu1365Pro
  • NP_001394602.1:p.Leu1365Pro
  • NP_001394603.1:p.Leu1365Pro
  • NP_001394604.1:p.Leu1365Pro
  • NP_001394605.1:p.Leu1365Pro
  • NP_001394606.1:p.Leu1366Pro
  • NP_001394607.1:p.Leu1366Pro
  • NP_001394608.1:p.Leu1366Pro
  • NP_001394609.1:p.Leu1366Pro
  • NP_001394610.1:p.Leu1365Pro
  • NP_001394611.1:p.Leu1365Pro
  • NP_001394612.1:p.Leu1365Pro
  • NP_001394613.1:p.Leu1407Pro
  • NP_001394614.1:p.Leu1364Pro
  • NP_001394615.1:p.Leu1364Pro
  • NP_001394616.1:p.Leu1364Pro
  • NP_001394617.1:p.Leu1365Pro
  • NP_001394618.1:p.Leu1365Pro
  • NP_001394619.1:p.Leu1364Pro
  • NP_001394620.1:p.Leu1364Pro
  • NP_001394621.1:p.Leu1360Pro
  • NP_001394623.1:p.Leu1360Pro
  • NP_001394624.1:p.Leu1360Pro
  • NP_001394625.1:p.Leu1360Pro
  • NP_001394626.1:p.Leu1360Pro
  • NP_001394627.1:p.Leu1360Pro
  • NP_001394653.1:p.Leu1360Pro
  • NP_001394654.1:p.Leu1360Pro
  • NP_001394655.1:p.Leu1360Pro
  • NP_001394656.1:p.Leu1360Pro
  • NP_001394657.1:p.Leu1360Pro
  • NP_001394658.1:p.Leu1360Pro
  • NP_001394659.1:p.Leu1360Pro
  • NP_001394660.1:p.Leu1360Pro
  • NP_001394661.1:p.Leu1360Pro
  • NP_001394662.1:p.Leu1360Pro
  • NP_001394663.1:p.Leu1360Pro
  • NP_001394664.1:p.Leu1360Pro
  • NP_001394665.1:p.Leu1360Pro
  • NP_001394666.1:p.Leu1360Pro
  • NP_001394667.1:p.Leu1360Pro
  • NP_001394668.1:p.Leu1360Pro
  • NP_001394669.1:p.Leu1359Pro
  • NP_001394670.1:p.Leu1359Pro
  • NP_001394671.1:p.Leu1359Pro
  • NP_001394672.1:p.Leu1359Pro
  • NP_001394673.1:p.Leu1359Pro
  • NP_001394674.1:p.Leu1359Pro
  • NP_001394675.1:p.Leu1359Pro
  • NP_001394676.1:p.Leu1359Pro
  • NP_001394677.1:p.Leu1359Pro
  • NP_001394678.1:p.Leu1359Pro
  • NP_001394679.1:p.Leu1359Pro
  • NP_001394680.1:p.Leu1359Pro
  • NP_001394681.1:p.Leu1359Pro
  • NP_001394767.1:p.Leu1359Pro
  • NP_001394768.1:p.Leu1359Pro
  • NP_001394770.1:p.Leu1359Pro
  • NP_001394771.1:p.Leu1359Pro
  • NP_001394772.1:p.Leu1359Pro
  • NP_001394773.1:p.Leu1359Pro
  • NP_001394774.1:p.Leu1359Pro
  • NP_001394775.1:p.Leu1359Pro
  • NP_001394776.1:p.Leu1358Pro
  • NP_001394777.1:p.Leu1358Pro
  • NP_001394778.1:p.Leu1358Pro
  • NP_001394779.1:p.Leu1359Pro
  • NP_001394780.1:p.Leu1359Pro
  • NP_001394781.1:p.Leu1359Pro
  • NP_001394782.1:p.Leu1336Pro
  • NP_001394783.1:p.Leu1407Pro
  • NP_001394787.1:p.Leu1407Pro
  • NP_001394788.1:p.Leu1407Pro
  • NP_001394789.1:p.Leu1406Pro
  • NP_001394790.1:p.Leu1406Pro
  • NP_001394791.1:p.Leu1340Pro
  • NP_001394792.1:p.Leu1366Pro
  • NP_001394803.1:p.Leu1339Pro
  • NP_001394804.1:p.Leu1339Pro
  • NP_001394808.1:p.Leu1337Pro
  • NP_001394810.1:p.Leu1337Pro
  • NP_001394811.1:p.Leu1337Pro
  • NP_001394813.1:p.Leu1337Pro
  • NP_001394814.1:p.Leu1337Pro
  • NP_001394815.1:p.Leu1337Pro
  • NP_001394816.1:p.Leu1337Pro
  • NP_001394818.1:p.Leu1337Pro
  • NP_001394823.1:p.Leu1336Pro
  • NP_001394824.1:p.Leu1336Pro
  • NP_001394825.1:p.Leu1336Pro
  • NP_001394826.1:p.Leu1336Pro
  • NP_001394827.1:p.Leu1336Pro
  • NP_001394828.1:p.Leu1336Pro
  • NP_001394829.1:p.Leu1337Pro
  • NP_001394831.1:p.Leu1337Pro
  • NP_001394833.1:p.Leu1337Pro
  • NP_001394835.1:p.Leu1337Pro
  • NP_001394836.1:p.Leu1336Pro
  • NP_001394837.1:p.Leu1336Pro
  • NP_001394838.1:p.Leu1336Pro
  • NP_001394839.1:p.Leu1336Pro
  • NP_001394844.1:p.Leu1335Pro
  • NP_001394845.1:p.Leu1336Pro
  • NP_001394846.1:p.Leu1336Pro
  • NP_001394847.1:p.Leu1336Pro
  • NP_001394848.1:p.Leu1366Pro
  • NP_001394849.1:p.Leu1319Pro
  • NP_001394850.1:p.Leu1319Pro
  • NP_001394851.1:p.Leu1319Pro
  • NP_001394852.1:p.Leu1319Pro
  • NP_001394853.1:p.Leu1319Pro
  • NP_001394854.1:p.Leu1319Pro
  • NP_001394855.1:p.Leu1319Pro
  • NP_001394856.1:p.Leu1319Pro
  • NP_001394857.1:p.Leu1319Pro
  • NP_001394858.1:p.Leu1319Pro
  • NP_001394859.1:p.Leu1318Pro
  • NP_001394860.1:p.Leu1318Pro
  • NP_001394861.1:p.Leu1318Pro
  • NP_001394862.1:p.Leu1318Pro
  • NP_001394863.1:p.Leu1317Pro
  • NP_001394864.1:p.Leu1318Pro
  • NP_001394865.1:p.Leu1318Pro
  • NP_001394866.1:p.Leu1366Pro
  • NP_001394867.1:p.Leu1366Pro
  • NP_001394868.1:p.Leu1366Pro
  • NP_001394869.1:p.Leu1365Pro
  • NP_001394870.1:p.Leu1365Pro
  • NP_001394871.1:p.Leu1360Pro
  • NP_001394872.1:p.Leu1359Pro
  • NP_001394873.1:p.Leu1360Pro
  • NP_001394874.1:p.Leu1360Pro
  • NP_001394875.1:p.Leu1296Pro
  • NP_001394876.1:p.Leu1296Pro
  • NP_001394877.1:p.Leu1296Pro
  • NP_001394878.1:p.Leu1296Pro
  • NP_001394879.1:p.Leu1296Pro
  • NP_001394880.1:p.Leu1296Pro
  • NP_001394881.1:p.Leu1295Pro
  • NP_001394882.1:p.Leu1295Pro
  • NP_001394883.1:p.Leu1295Pro
  • NP_001394884.1:p.Leu1295Pro
  • NP_001394885.1:p.Leu1294Pro
  • NP_001394886.1:p.Leu1295Pro
  • NP_001394887.1:p.Leu1295Pro
  • NP_001394888.1:p.Leu1280Pro
  • NP_001394889.1:p.Leu1280Pro
  • NP_001394891.1:p.Leu1279Pro
  • NP_001394892.1:p.Leu1279Pro
  • NP_001394893.1:p.Leu1359Pro
  • NP_001394894.1:p.Leu1238Pro
  • NP_001394895.1:p.Leu1111Pro
  • NP_001394896.1:p.Leu1111Pro
  • NP_001394897.1:p.Leu539Pro
  • NP_001394898.1:p.Leu538Pro
  • NP_001394899.1:p.Leu304Pro
  • NP_001394900.1:p.Leu304Pro
  • NP_001394901.1:p.Leu303Pro
  • NP_001394902.1:p.Leu304Pro
  • NP_001394903.1:p.Leu304Pro
  • NP_001394904.1:p.Leu304Pro
  • NP_001394905.1:p.Leu304Pro
  • NP_001394906.1:p.Leu304Pro
  • NP_001394907.1:p.Leu304Pro
  • NP_001394908.1:p.Leu303Pro
  • NP_001394909.1:p.Leu303Pro
  • NP_001394910.1:p.Leu303Pro
  • NP_001394911.1:p.Leu303Pro
  • NP_001394912.1:p.Leu303Pro
  • NP_001394913.1:p.Leu303Pro
  • NP_001394914.1:p.Leu303Pro
  • NP_001394915.1:p.Leu303Pro
  • NP_001394919.1:p.Leu303Pro
  • NP_001394920.1:p.Leu303Pro
  • NP_001394921.1:p.Leu303Pro
  • NP_001394922.1:p.Leu304Pro
  • NP_001395321.1:p.Leu303Pro
  • NP_001395325.1:p.Leu303Pro
  • NP_001395326.1:p.Leu303Pro
  • NP_001395327.1:p.Leu303Pro
  • NP_001395328.1:p.Leu303Pro
  • NP_001395329.1:p.Leu302Pro
  • NP_001395330.1:p.Leu302Pro
  • NP_001395331.1:p.Leu302Pro
  • NP_001395332.1:p.Leu303Pro
  • NP_001395333.1:p.Leu303Pro
  • NP_001395335.1:p.Leu301Pro
  • NP_001395336.1:p.Leu302Pro
  • NP_001395337.1:p.Leu301Pro
  • NP_001395338.1:p.Leu278Pro
  • NP_001395339.1:p.Leu257Pro
  • NP_001395340.1:p.Leu278Pro
  • NP_001395341.1:p.Leu278Pro
  • NP_001395342.1:p.Leu277Pro
  • NP_001395343.1:p.Leu278Pro
  • NP_001395344.1:p.Leu278Pro
  • NP_001395345.1:p.Leu277Pro
  • NP_001395347.1:p.Leu265Pro
  • NP_001395348.1:p.Leu265Pro
  • NP_001395349.1:p.Leu265Pro
  • NP_001395350.1:p.Leu264Pro
  • NP_001395351.1:p.Leu265Pro
  • NP_001395352.1:p.Leu265Pro
  • NP_001395353.1:p.Leu264Pro
  • NP_001395354.1:p.Leu263Pro
  • NP_001395355.1:p.Leu263Pro
  • NP_001395356.1:p.Leu263Pro
  • NP_001395357.1:p.Leu263Pro
  • NP_001395358.1:p.Leu263Pro
  • NP_001395359.1:p.Leu263Pro
  • NP_001395360.1:p.Leu264Pro
  • NP_001395361.1:p.Leu262Pro
  • NP_001395362.1:p.Leu262Pro
  • NP_001395363.1:p.Leu262Pro
  • NP_001395364.1:p.Leu262Pro
  • NP_001395365.1:p.Leu263Pro
  • NP_001395366.1:p.Leu263Pro
  • NP_001395367.1:p.Leu263Pro
  • NP_001395368.1:p.Leu263Pro
  • NP_001395369.1:p.Leu263Pro
  • NP_001395370.1:p.Leu262Pro
  • NP_001395371.1:p.Leu262Pro
  • NP_001395372.1:p.Leu262Pro
  • NP_001395373.1:p.Leu262Pro
  • NP_001395374.1:p.Leu262Pro
  • NP_001395375.1:p.Leu262Pro
  • NP_001395376.1:p.Leu262Pro
  • NP_001395377.1:p.Leu262Pro
  • NP_001395379.1:p.Leu262Pro
  • NP_001395380.1:p.Leu259Pro
  • NP_001395381.1:p.Leu257Pro
  • NP_001395382.1:p.Leu257Pro
  • NP_001395383.1:p.Leu257Pro
  • NP_001395384.1:p.Leu257Pro
  • NP_001395385.1:p.Leu257Pro
  • NP_001395386.1:p.Leu257Pro
  • NP_001395387.1:p.Leu257Pro
  • NP_001395388.1:p.Leu257Pro
  • NP_001395389.1:p.Leu257Pro
  • NP_001395390.1:p.Leu257Pro
  • NP_001395391.1:p.Leu256Pro
  • NP_001395392.1:p.Leu256Pro
  • NP_001395393.1:p.Leu256Pro
  • NP_001395394.1:p.Leu256Pro
  • NP_001395395.1:p.Leu256Pro
  • NP_001395396.1:p.Leu256Pro
  • NP_001395397.1:p.Leu256Pro
  • NP_001395398.1:p.Leu256Pro
  • NP_001395399.1:p.Leu255Pro
  • NP_001395401.1:p.Leu303Pro
  • NP_001395402.1:p.Leu303Pro
  • NP_001395403.1:p.Leu237Pro
  • NP_001395404.1:p.Leu236Pro
  • NP_001395405.1:p.Leu237Pro
  • NP_001395407.1:p.Leu234Pro
  • NP_001395408.1:p.Leu234Pro
  • NP_001395409.1:p.Leu234Pro
  • NP_001395410.1:p.Leu234Pro
  • NP_001395411.1:p.Leu234Pro
  • NP_001395412.1:p.Leu234Pro
  • NP_001395413.1:p.Leu234Pro
  • NP_001395414.1:p.Leu234Pro
  • NP_001395418.1:p.Leu233Pro
  • NP_001395419.1:p.Leu233Pro
  • NP_001395420.1:p.Leu233Pro
  • NP_001395421.1:p.Leu233Pro
  • NP_001395422.1:p.Leu233Pro
  • NP_001395423.1:p.Leu224Pro
  • NP_001395424.1:p.Leu223Pro
  • NP_001395425.1:p.Leu216Pro
  • NP_001395426.1:p.Leu216Pro
  • NP_001395427.1:p.Leu216Pro
  • NP_001395428.1:p.Leu216Pro
  • NP_001395429.1:p.Leu216Pro
  • NP_001395430.1:p.Leu216Pro
  • NP_001395431.1:p.Leu193Pro
  • NP_001395432.1:p.Leu215Pro
  • NP_001395433.1:p.Leu215Pro
  • NP_001395434.1:p.Leu215Pro
  • NP_001395435.1:p.Leu195Pro
  • NP_001395436.1:p.Leu194Pro
  • NP_001395437.1:p.Leu191Pro
  • NP_001395438.1:p.Leu191Pro
  • NP_001395439.1:p.Leu177Pro
  • NP_001395440.1:p.Leu176Pro
  • NP_001395441.1:p.Leu136Pro
  • NP_001395442.1:p.Leu233Pro
  • NP_001395443.1:p.Leu234Pro
  • NP_009225.1:p.Leu1407Pro
  • NP_009225.1:p.Leu1407Pro
  • NP_009228.2:p.Leu1360Pro
  • NP_009229.2:p.Leu304Pro
  • NP_009229.2:p.Leu304Pro
  • NP_009230.2:p.Leu304Pro
  • NP_009231.2:p.Leu1407Pro
  • NP_009235.2:p.Leu304Pro
  • LRG_292t1:c.4220T>C
  • LRG_292:g.135443T>C
  • LRG_292p1:p.Leu1407Pro
  • NC_000017.10:g.41234558A>G
  • NM_007294.3:c.4220T>C
  • NM_007298.3:c.911T>C
  • NR_027676.2:n.4397T>C
  • P38398:p.Leu1407Pro
  • U14680.1:n.4339T>C
Protein change:
L1111P
Links:
UniProtKB: P38398#VAR_070489; dbSNP: rs80357492
NCBI 1000 Genomes Browser:
rs80357492
Molecular consequence:
  • NM_001407571.1:c.4007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4214T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4214T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4214T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4214T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4214T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4214T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4214T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4214T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4142T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4142T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4142T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4139T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4142T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4142T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4136T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4136T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4139T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4139T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4139T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4091T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4091T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4091T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4091T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4091T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4073T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4073T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4073T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4019T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4016T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4016T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4010T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4010T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4010T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4010T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4010T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4010T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4010T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4010T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4010T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4010T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4010T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4010T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4004T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3956T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3956T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3956T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3956T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3956T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3956T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3956T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3956T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3956T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3956T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3953T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3953T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3953T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3953T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3950T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3953T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3953T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3887T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3884T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3884T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3884T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3884T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3881T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3884T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3884T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3839T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3839T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3836T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3836T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4076T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3713T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3332T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3332T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1616T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1613T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.905T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.905T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.905T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.902T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.905T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.902T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.833T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.770T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.833T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.833T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.830T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.833T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.833T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.830T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.794T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.794T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.794T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.791T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.794T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.794T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.791T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.791T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.776T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.770T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.770T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.770T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.770T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.770T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.770T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.770T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.770T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.770T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.770T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.767T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.764T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.707T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.701T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.701T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.701T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.701T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.701T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.701T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.701T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.701T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.698T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.698T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.698T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.698T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.698T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.671T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.647T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.647T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.647T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.647T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.647T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.647T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.578T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.644T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.644T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.644T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.584T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.581T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.572T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.572T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.527T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.407T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.698T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.701T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4079T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4220T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4397T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001517943Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 27, 2023) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Classification of BRCA1 missense variants of unknown clinical significance.

Phelan CM, Dapic V, Tice B, Favis R, Kwan E, Barany F, Manoukian S, Radice P, van der Luijt RB, van Nesselrooij BP, Chenevix-Trench G, kConFab, Caldes T, de la Hoya M, Lindquist S, Tavtigian SV, Goldgar D, Borg A, Narod SA, Monteiro AN.

J Med Genet. 2005 Feb;42(2):138-46.

PubMed [citation]
PMID:
15689452
PMCID:
PMC1735988

PALB2 is an integral component of the BRCA complex required for homologous recombination repair.

Sy SM, Huen MS, Chen J.

Proc Natl Acad Sci U S A. 2009 Apr 28;106(17):7155-60. doi: 10.1073/pnas.0811159106. Epub 2009 Apr 15.

PubMed [citation]
PMID:
19369211
PMCID:
PMC2678481
See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001517943.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1407 of the BRCA1 protein (p.Leu1407Pro). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 55144). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 15689452, 19369211, 23867111, 28398198). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been 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