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NM_007294.4(BRCA1):c.4288C>G (p.Pro1430Ala) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Oct 1, 2023
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:
RCV000771639.6

Allele description [Variation Report for NM_007294.4(BRCA1):c.4288C>G (p.Pro1430Ala)]

NM_007294.4(BRCA1):c.4288C>G (p.Pro1430Ala)

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.4288C>G (p.Pro1430Ala)
HGVS:
  • NC_000017.11:g.43082473G>C
  • NG_005905.2:g.135511C>G
  • NM_001407571.1:c.4075C>G
  • NM_001407581.1:c.4288C>G
  • NM_001407582.1:c.4288C>G
  • NM_001407583.1:c.4288C>G
  • NM_001407585.1:c.4288C>G
  • NM_001407587.1:c.4285C>G
  • NM_001407590.1:c.4285C>G
  • NM_001407591.1:c.4285C>G
  • NM_001407593.1:c.4288C>G
  • NM_001407594.1:c.4288C>G
  • NM_001407596.1:c.4288C>G
  • NM_001407597.1:c.4288C>G
  • NM_001407598.1:c.4288C>G
  • NM_001407602.1:c.4288C>G
  • NM_001407603.1:c.4288C>G
  • NM_001407605.1:c.4288C>G
  • NM_001407610.1:c.4285C>G
  • NM_001407611.1:c.4285C>G
  • NM_001407612.1:c.4285C>G
  • NM_001407613.1:c.4285C>G
  • NM_001407614.1:c.4285C>G
  • NM_001407615.1:c.4285C>G
  • NM_001407616.1:c.4288C>G
  • NM_001407617.1:c.4288C>G
  • NM_001407618.1:c.4288C>G
  • NM_001407619.1:c.4288C>G
  • NM_001407620.1:c.4288C>G
  • NM_001407621.1:c.4288C>G
  • NM_001407622.1:c.4288C>G
  • NM_001407623.1:c.4288C>G
  • NM_001407624.1:c.4285C>G
  • NM_001407625.1:c.4285C>G
  • NM_001407626.1:c.4285C>G
  • NM_001407627.1:c.4282C>G
  • NM_001407628.1:c.4282C>G
  • NM_001407629.1:c.4282C>G
  • NM_001407630.1:c.4282C>G
  • NM_001407631.1:c.4282C>G
  • NM_001407632.1:c.4282C>G
  • NM_001407633.1:c.4285C>G
  • NM_001407634.1:c.4285C>G
  • NM_001407635.1:c.4285C>G
  • NM_001407636.1:c.4285C>G
  • NM_001407637.1:c.4285C>G
  • NM_001407638.1:c.4285C>G
  • NM_001407639.1:c.4285C>G
  • NM_001407640.1:c.4285C>G
  • NM_001407641.1:c.4285C>G
  • NM_001407642.1:c.4285C>G
  • NM_001407644.1:c.4282C>G
  • NM_001407645.1:c.4282C>G
  • NM_001407646.1:c.4276C>G
  • NM_001407647.1:c.4276C>G
  • NM_001407648.1:c.4165C>G
  • NM_001407649.1:c.4162C>G
  • NM_001407652.1:c.4288C>G
  • NM_001407653.1:c.4210C>G
  • NM_001407654.1:c.4210C>G
  • NM_001407655.1:c.4210C>G
  • NM_001407656.1:c.4207C>G
  • NM_001407657.1:c.4210C>G
  • NM_001407658.1:c.4210C>G
  • NM_001407659.1:c.4204C>G
  • NM_001407660.1:c.4204C>G
  • NM_001407661.1:c.4207C>G
  • NM_001407662.1:c.4207C>G
  • NM_001407663.1:c.4207C>G
  • NM_001407664.1:c.4165C>G
  • NM_001407665.1:c.4165C>G
  • NM_001407666.1:c.4165C>G
  • NM_001407667.1:c.4165C>G
  • NM_001407668.1:c.4165C>G
  • NM_001407669.1:c.4165C>G
  • NM_001407670.1:c.4162C>G
  • NM_001407671.1:c.4162C>G
  • NM_001407672.1:c.4162C>G
  • NM_001407673.1:c.4162C>G
  • NM_001407674.1:c.4162C>G
  • NM_001407675.1:c.4162C>G
  • NM_001407676.1:c.4162C>G
  • NM_001407677.1:c.4165C>G
  • NM_001407678.1:c.4165C>G
  • NM_001407679.1:c.4165C>G
  • NM_001407680.1:c.4165C>G
  • NM_001407681.1:c.4162C>G
  • NM_001407682.1:c.4162C>G
  • NM_001407683.1:c.4162C>G
  • NM_001407684.1:c.4288C>G
  • NM_001407685.1:c.4159C>G
  • NM_001407686.1:c.4159C>G
  • NM_001407687.1:c.4159C>G
  • NM_001407688.1:c.4162C>G
  • NM_001407689.1:c.4162C>G
  • NM_001407690.1:c.4159C>G
  • NM_001407691.1:c.4159C>G
  • NM_001407692.1:c.4147C>G
  • NM_001407694.1:c.4147C>G
  • NM_001407695.1:c.4147C>G
  • NM_001407696.1:c.4147C>G
  • NM_001407697.1:c.4147C>G
  • NM_001407698.1:c.4147C>G
  • NM_001407724.1:c.4147C>G
  • NM_001407725.1:c.4147C>G
  • NM_001407726.1:c.4147C>G
  • NM_001407727.1:c.4147C>G
  • NM_001407728.1:c.4147C>G
  • NM_001407729.1:c.4147C>G
  • NM_001407730.1:c.4147C>G
  • NM_001407731.1:c.4147C>G
  • NM_001407732.1:c.4147C>G
  • NM_001407733.1:c.4147C>G
  • NM_001407734.1:c.4147C>G
  • NM_001407735.1:c.4147C>G
  • NM_001407736.1:c.4147C>G
  • NM_001407737.1:c.4147C>G
  • NM_001407738.1:c.4147C>G
  • NM_001407739.1:c.4147C>G
  • NM_001407740.1:c.4144C>G
  • NM_001407741.1:c.4144C>G
  • NM_001407742.1:c.4144C>G
  • NM_001407743.1:c.4144C>G
  • NM_001407744.1:c.4144C>G
  • NM_001407745.1:c.4144C>G
  • NM_001407746.1:c.4144C>G
  • NM_001407747.1:c.4144C>G
  • NM_001407748.1:c.4144C>G
  • NM_001407749.1:c.4144C>G
  • NM_001407750.1:c.4144C>G
  • NM_001407751.1:c.4144C>G
  • NM_001407752.1:c.4144C>G
  • NM_001407838.1:c.4144C>G
  • NM_001407839.1:c.4144C>G
  • NM_001407841.1:c.4144C>G
  • NM_001407842.1:c.4144C>G
  • NM_001407843.1:c.4144C>G
  • NM_001407844.1:c.4144C>G
  • NM_001407845.1:c.4144C>G
  • NM_001407846.1:c.4144C>G
  • NM_001407847.1:c.4141C>G
  • NM_001407848.1:c.4141C>G
  • NM_001407849.1:c.4141C>G
  • NM_001407850.1:c.4144C>G
  • NM_001407851.1:c.4144C>G
  • NM_001407852.1:c.4144C>G
  • NM_001407853.1:c.4075C>G
  • NM_001407854.1:c.4288C>G
  • NM_001407858.1:c.4288C>G
  • NM_001407859.1:c.4288C>G
  • NM_001407860.1:c.4285C>G
  • NM_001407861.1:c.4285C>G
  • NM_001407862.1:c.4087C>G
  • NM_001407863.1:c.4165C>G
  • NM_001407874.1:c.4084C>G
  • NM_001407875.1:c.4084C>G
  • NM_001407879.1:c.4078C>G
  • NM_001407881.1:c.4078C>G
  • NM_001407882.1:c.4078C>G
  • NM_001407884.1:c.4078C>G
  • NM_001407885.1:c.4078C>G
  • NM_001407886.1:c.4078C>G
  • NM_001407887.1:c.4078C>G
  • NM_001407889.1:c.4078C>G
  • NM_001407894.1:c.4075C>G
  • NM_001407895.1:c.4075C>G
  • NM_001407896.1:c.4075C>G
  • NM_001407897.1:c.4075C>G
  • NM_001407898.1:c.4075C>G
  • NM_001407899.1:c.4075C>G
  • NM_001407900.1:c.4078C>G
  • NM_001407902.1:c.4078C>G
  • NM_001407904.1:c.4078C>G
  • NM_001407906.1:c.4078C>G
  • NM_001407907.1:c.4075C>G
  • NM_001407908.1:c.4075C>G
  • NM_001407909.1:c.4075C>G
  • NM_001407910.1:c.4075C>G
  • NM_001407915.1:c.4072C>G
  • NM_001407916.1:c.4075C>G
  • NM_001407917.1:c.4075C>G
  • NM_001407918.1:c.4075C>G
  • NM_001407919.1:c.4165C>G
  • NM_001407920.1:c.4024C>G
  • NM_001407921.1:c.4024C>G
  • NM_001407922.1:c.4024C>G
  • NM_001407923.1:c.4024C>G
  • NM_001407924.1:c.4024C>G
  • NM_001407925.1:c.4024C>G
  • NM_001407926.1:c.4024C>G
  • NM_001407927.1:c.4024C>G
  • NM_001407928.1:c.4024C>G
  • NM_001407929.1:c.4024C>G
  • NM_001407930.1:c.4021C>G
  • NM_001407931.1:c.4021C>G
  • NM_001407932.1:c.4021C>G
  • NM_001407933.1:c.4021C>G
  • NM_001407934.1:c.4018C>G
  • NM_001407935.1:c.4021C>G
  • NM_001407936.1:c.4021C>G
  • NM_001407937.1:c.4165C>G
  • NM_001407938.1:c.4165C>G
  • NM_001407939.1:c.4165C>G
  • NM_001407940.1:c.4162C>G
  • NM_001407941.1:c.4162C>G
  • NM_001407942.1:c.4147C>G
  • NM_001407943.1:c.4144C>G
  • NM_001407944.1:c.4147C>G
  • NM_001407945.1:c.4147C>G
  • NM_001407946.1:c.3955C>G
  • NM_001407947.1:c.3955C>G
  • NM_001407948.1:c.3955C>G
  • NM_001407949.1:c.3955C>G
  • NM_001407950.1:c.3955C>G
  • NM_001407951.1:c.3955C>G
  • NM_001407952.1:c.3952C>G
  • NM_001407953.1:c.3952C>G
  • NM_001407954.1:c.3952C>G
  • NM_001407955.1:c.3952C>G
  • NM_001407956.1:c.3949C>G
  • NM_001407957.1:c.3952C>G
  • NM_001407958.1:c.3952C>G
  • NM_001407959.1:c.3907C>G
  • NM_001407960.1:c.3907C>G
  • NM_001407962.1:c.3904C>G
  • NM_001407963.1:c.3904C>G
  • NM_001407964.1:c.4144C>G
  • NM_001407965.1:c.3781C>G
  • NM_001407966.1:c.3400C>G
  • NM_001407967.1:c.3400C>G
  • NM_001407968.1:c.1684C>G
  • NM_001407969.1:c.1681C>G
  • NM_001407970.1:c.979C>G
  • NM_001407971.1:c.979C>G
  • NM_001407972.1:c.976C>G
  • NM_001407973.1:c.979C>G
  • NM_001407974.1:c.979C>G
  • NM_001407975.1:c.979C>G
  • NM_001407976.1:c.979C>G
  • NM_001407977.1:c.979C>G
  • NM_001407978.1:c.979C>G
  • NM_001407979.1:c.976C>G
  • NM_001407980.1:c.976C>G
  • NM_001407981.1:c.976C>G
  • NM_001407982.1:c.976C>G
  • NM_001407983.1:c.976C>G
  • NM_001407984.1:c.976C>G
  • NM_001407985.1:c.976C>G
  • NM_001407986.1:c.976C>G
  • NM_001407990.1:c.976C>G
  • NM_001407991.1:c.976C>G
  • NM_001407992.1:c.976C>G
  • NM_001407993.1:c.979C>G
  • NM_001408392.1:c.976C>G
  • NM_001408396.1:c.976C>G
  • NM_001408397.1:c.976C>G
  • NM_001408398.1:c.976C>G
  • NM_001408399.1:c.976C>G
  • NM_001408400.1:c.973C>G
  • NM_001408401.1:c.973C>G
  • NM_001408402.1:c.973C>G
  • NM_001408403.1:c.976C>G
  • NM_001408404.1:c.976C>G
  • NM_001408406.1:c.970C>G
  • NM_001408407.1:c.973C>G
  • NM_001408408.1:c.970C>G
  • NM_001408409.1:c.901C>G
  • NM_001408410.1:c.838C>G
  • NM_001408411.1:c.901C>G
  • NM_001408412.1:c.901C>G
  • NM_001408413.1:c.898C>G
  • NM_001408414.1:c.901C>G
  • NM_001408415.1:c.901C>G
  • NM_001408416.1:c.898C>G
  • NM_001408418.1:c.862C>G
  • NM_001408419.1:c.862C>G
  • NM_001408420.1:c.862C>G
  • NM_001408421.1:c.859C>G
  • NM_001408422.1:c.862C>G
  • NM_001408423.1:c.862C>G
  • NM_001408424.1:c.859C>G
  • NM_001408425.1:c.856C>G
  • NM_001408426.1:c.856C>G
  • NM_001408427.1:c.856C>G
  • NM_001408428.1:c.856C>G
  • NM_001408429.1:c.856C>G
  • NM_001408430.1:c.856C>G
  • NM_001408431.1:c.859C>G
  • NM_001408432.1:c.853C>G
  • NM_001408433.1:c.853C>G
  • NM_001408434.1:c.853C>G
  • NM_001408435.1:c.853C>G
  • NM_001408436.1:c.856C>G
  • NM_001408437.1:c.856C>G
  • NM_001408438.1:c.856C>G
  • NM_001408439.1:c.856C>G
  • NM_001408440.1:c.856C>G
  • NM_001408441.1:c.853C>G
  • NM_001408442.1:c.853C>G
  • NM_001408443.1:c.853C>G
  • NM_001408444.1:c.853C>G
  • NM_001408445.1:c.853C>G
  • NM_001408446.1:c.853C>G
  • NM_001408447.1:c.853C>G
  • NM_001408448.1:c.853C>G
  • NM_001408450.1:c.853C>G
  • NM_001408451.1:c.844C>G
  • NM_001408452.1:c.838C>G
  • NM_001408453.1:c.838C>G
  • NM_001408454.1:c.838C>G
  • NM_001408455.1:c.838C>G
  • NM_001408456.1:c.838C>G
  • NM_001408457.1:c.838C>G
  • NM_001408458.1:c.838C>G
  • NM_001408459.1:c.838C>G
  • NM_001408460.1:c.838C>G
  • NM_001408461.1:c.838C>G
  • NM_001408462.1:c.835C>G
  • NM_001408463.1:c.835C>G
  • NM_001408464.1:c.835C>G
  • NM_001408465.1:c.835C>G
  • NM_001408466.1:c.835C>G
  • NM_001408467.1:c.835C>G
  • NM_001408468.1:c.835C>G
  • NM_001408469.1:c.835C>G
  • NM_001408470.1:c.832C>G
  • NM_001408472.1:c.976C>G
  • NM_001408473.1:c.976C>G
  • NM_001408474.1:c.778C>G
  • NM_001408475.1:c.775C>G
  • NM_001408476.1:c.778C>G
  • NM_001408478.1:c.769C>G
  • NM_001408479.1:c.769C>G
  • NM_001408480.1:c.769C>G
  • NM_001408481.1:c.769C>G
  • NM_001408482.1:c.769C>G
  • NM_001408483.1:c.769C>G
  • NM_001408484.1:c.769C>G
  • NM_001408485.1:c.769C>G
  • NM_001408489.1:c.766C>G
  • NM_001408490.1:c.766C>G
  • NM_001408491.1:c.766C>G
  • NM_001408492.1:c.766C>G
  • NM_001408493.1:c.766C>G
  • NM_001408494.1:c.739C>G
  • NM_001408495.1:c.736C>G
  • NM_001408496.1:c.715C>G
  • NM_001408497.1:c.715C>G
  • NM_001408498.1:c.715C>G
  • NM_001408499.1:c.715C>G
  • NM_001408500.1:c.715C>G
  • NM_001408501.1:c.715C>G
  • NM_001408502.1:c.646C>G
  • NM_001408503.1:c.712C>G
  • NM_001408504.1:c.712C>G
  • NM_001408505.1:c.712C>G
  • NM_001408506.1:c.652C>G
  • NM_001408507.1:c.649C>G
  • NM_001408508.1:c.640C>G
  • NM_001408509.1:c.640C>G
  • NM_001408510.1:c.598C>G
  • NM_001408511.1:c.595C>G
  • NM_001408512.1:c.475C>G
  • NM_001408513.1:c.766C>G
  • NM_001408514.1:c.769C>G
  • NM_007294.4:c.4288C>GMANE SELECT
  • NM_007297.4:c.4147C>G
  • NM_007298.4:c.979C>G
  • NM_007299.4:c.979C>G
  • NM_007300.4:c.4288C>G
  • NM_007304.2:c.979C>G
  • NP_001394500.1:p.Pro1359Ala
  • NP_001394510.1:p.Pro1430Ala
  • NP_001394511.1:p.Pro1430Ala
  • NP_001394512.1:p.Pro1430Ala
  • NP_001394514.1:p.Pro1430Ala
  • NP_001394516.1:p.Pro1429Ala
  • NP_001394519.1:p.Pro1429Ala
  • NP_001394520.1:p.Pro1429Ala
  • NP_001394522.1:p.Pro1430Ala
  • NP_001394523.1:p.Pro1430Ala
  • NP_001394525.1:p.Pro1430Ala
  • NP_001394526.1:p.Pro1430Ala
  • NP_001394527.1:p.Pro1430Ala
  • NP_001394531.1:p.Pro1430Ala
  • NP_001394532.1:p.Pro1430Ala
  • NP_001394534.1:p.Pro1430Ala
  • NP_001394539.1:p.Pro1429Ala
  • NP_001394540.1:p.Pro1429Ala
  • NP_001394541.1:p.Pro1429Ala
  • NP_001394542.1:p.Pro1429Ala
  • NP_001394543.1:p.Pro1429Ala
  • NP_001394544.1:p.Pro1429Ala
  • NP_001394545.1:p.Pro1430Ala
  • NP_001394546.1:p.Pro1430Ala
  • NP_001394547.1:p.Pro1430Ala
  • NP_001394548.1:p.Pro1430Ala
  • NP_001394549.1:p.Pro1430Ala
  • NP_001394550.1:p.Pro1430Ala
  • NP_001394551.1:p.Pro1430Ala
  • NP_001394552.1:p.Pro1430Ala
  • NP_001394553.1:p.Pro1429Ala
  • NP_001394554.1:p.Pro1429Ala
  • NP_001394555.1:p.Pro1429Ala
  • NP_001394556.1:p.Pro1428Ala
  • NP_001394557.1:p.Pro1428Ala
  • NP_001394558.1:p.Pro1428Ala
  • NP_001394559.1:p.Pro1428Ala
  • NP_001394560.1:p.Pro1428Ala
  • NP_001394561.1:p.Pro1428Ala
  • NP_001394562.1:p.Pro1429Ala
  • NP_001394563.1:p.Pro1429Ala
  • NP_001394564.1:p.Pro1429Ala
  • NP_001394565.1:p.Pro1429Ala
  • NP_001394566.1:p.Pro1429Ala
  • NP_001394567.1:p.Pro1429Ala
  • NP_001394568.1:p.Pro1429Ala
  • NP_001394569.1:p.Pro1429Ala
  • NP_001394570.1:p.Pro1429Ala
  • NP_001394571.1:p.Pro1429Ala
  • NP_001394573.1:p.Pro1428Ala
  • NP_001394574.1:p.Pro1428Ala
  • NP_001394575.1:p.Pro1426Ala
  • NP_001394576.1:p.Pro1426Ala
  • NP_001394577.1:p.Pro1389Ala
  • NP_001394578.1:p.Pro1388Ala
  • NP_001394581.1:p.Pro1430Ala
  • NP_001394582.1:p.Pro1404Ala
  • NP_001394583.1:p.Pro1404Ala
  • NP_001394584.1:p.Pro1404Ala
  • NP_001394585.1:p.Pro1403Ala
  • NP_001394586.1:p.Pro1404Ala
  • NP_001394587.1:p.Pro1404Ala
  • NP_001394588.1:p.Pro1402Ala
  • NP_001394589.1:p.Pro1402Ala
  • NP_001394590.1:p.Pro1403Ala
  • NP_001394591.1:p.Pro1403Ala
  • NP_001394592.1:p.Pro1403Ala
  • NP_001394593.1:p.Pro1389Ala
  • NP_001394594.1:p.Pro1389Ala
  • NP_001394595.1:p.Pro1389Ala
  • NP_001394596.1:p.Pro1389Ala
  • NP_001394597.1:p.Pro1389Ala
  • NP_001394598.1:p.Pro1389Ala
  • NP_001394599.1:p.Pro1388Ala
  • NP_001394600.1:p.Pro1388Ala
  • NP_001394601.1:p.Pro1388Ala
  • NP_001394602.1:p.Pro1388Ala
  • NP_001394603.1:p.Pro1388Ala
  • NP_001394604.1:p.Pro1388Ala
  • NP_001394605.1:p.Pro1388Ala
  • NP_001394606.1:p.Pro1389Ala
  • NP_001394607.1:p.Pro1389Ala
  • NP_001394608.1:p.Pro1389Ala
  • NP_001394609.1:p.Pro1389Ala
  • NP_001394610.1:p.Pro1388Ala
  • NP_001394611.1:p.Pro1388Ala
  • NP_001394612.1:p.Pro1388Ala
  • NP_001394613.1:p.Pro1430Ala
  • NP_001394614.1:p.Pro1387Ala
  • NP_001394615.1:p.Pro1387Ala
  • NP_001394616.1:p.Pro1387Ala
  • NP_001394617.1:p.Pro1388Ala
  • NP_001394618.1:p.Pro1388Ala
  • NP_001394619.1:p.Pro1387Ala
  • NP_001394620.1:p.Pro1387Ala
  • NP_001394621.1:p.Pro1383Ala
  • NP_001394623.1:p.Pro1383Ala
  • NP_001394624.1:p.Pro1383Ala
  • NP_001394625.1:p.Pro1383Ala
  • NP_001394626.1:p.Pro1383Ala
  • NP_001394627.1:p.Pro1383Ala
  • NP_001394653.1:p.Pro1383Ala
  • NP_001394654.1:p.Pro1383Ala
  • NP_001394655.1:p.Pro1383Ala
  • NP_001394656.1:p.Pro1383Ala
  • NP_001394657.1:p.Pro1383Ala
  • NP_001394658.1:p.Pro1383Ala
  • NP_001394659.1:p.Pro1383Ala
  • NP_001394660.1:p.Pro1383Ala
  • NP_001394661.1:p.Pro1383Ala
  • NP_001394662.1:p.Pro1383Ala
  • NP_001394663.1:p.Pro1383Ala
  • NP_001394664.1:p.Pro1383Ala
  • NP_001394665.1:p.Pro1383Ala
  • NP_001394666.1:p.Pro1383Ala
  • NP_001394667.1:p.Pro1383Ala
  • NP_001394668.1:p.Pro1383Ala
  • NP_001394669.1:p.Pro1382Ala
  • NP_001394670.1:p.Pro1382Ala
  • NP_001394671.1:p.Pro1382Ala
  • NP_001394672.1:p.Pro1382Ala
  • NP_001394673.1:p.Pro1382Ala
  • NP_001394674.1:p.Pro1382Ala
  • NP_001394675.1:p.Pro1382Ala
  • NP_001394676.1:p.Pro1382Ala
  • NP_001394677.1:p.Pro1382Ala
  • NP_001394678.1:p.Pro1382Ala
  • NP_001394679.1:p.Pro1382Ala
  • NP_001394680.1:p.Pro1382Ala
  • NP_001394681.1:p.Pro1382Ala
  • NP_001394767.1:p.Pro1382Ala
  • NP_001394768.1:p.Pro1382Ala
  • NP_001394770.1:p.Pro1382Ala
  • NP_001394771.1:p.Pro1382Ala
  • NP_001394772.1:p.Pro1382Ala
  • NP_001394773.1:p.Pro1382Ala
  • NP_001394774.1:p.Pro1382Ala
  • NP_001394775.1:p.Pro1382Ala
  • NP_001394776.1:p.Pro1381Ala
  • NP_001394777.1:p.Pro1381Ala
  • NP_001394778.1:p.Pro1381Ala
  • NP_001394779.1:p.Pro1382Ala
  • NP_001394780.1:p.Pro1382Ala
  • NP_001394781.1:p.Pro1382Ala
  • NP_001394782.1:p.Pro1359Ala
  • NP_001394783.1:p.Pro1430Ala
  • NP_001394787.1:p.Pro1430Ala
  • NP_001394788.1:p.Pro1430Ala
  • NP_001394789.1:p.Pro1429Ala
  • NP_001394790.1:p.Pro1429Ala
  • NP_001394791.1:p.Pro1363Ala
  • NP_001394792.1:p.Pro1389Ala
  • NP_001394803.1:p.Pro1362Ala
  • NP_001394804.1:p.Pro1362Ala
  • NP_001394808.1:p.Pro1360Ala
  • NP_001394810.1:p.Pro1360Ala
  • NP_001394811.1:p.Pro1360Ala
  • NP_001394813.1:p.Pro1360Ala
  • NP_001394814.1:p.Pro1360Ala
  • NP_001394815.1:p.Pro1360Ala
  • NP_001394816.1:p.Pro1360Ala
  • NP_001394818.1:p.Pro1360Ala
  • NP_001394823.1:p.Pro1359Ala
  • NP_001394824.1:p.Pro1359Ala
  • NP_001394825.1:p.Pro1359Ala
  • NP_001394826.1:p.Pro1359Ala
  • NP_001394827.1:p.Pro1359Ala
  • NP_001394828.1:p.Pro1359Ala
  • NP_001394829.1:p.Pro1360Ala
  • NP_001394831.1:p.Pro1360Ala
  • NP_001394833.1:p.Pro1360Ala
  • NP_001394835.1:p.Pro1360Ala
  • NP_001394836.1:p.Pro1359Ala
  • NP_001394837.1:p.Pro1359Ala
  • NP_001394838.1:p.Pro1359Ala
  • NP_001394839.1:p.Pro1359Ala
  • NP_001394844.1:p.Pro1358Ala
  • NP_001394845.1:p.Pro1359Ala
  • NP_001394846.1:p.Pro1359Ala
  • NP_001394847.1:p.Pro1359Ala
  • NP_001394848.1:p.Pro1389Ala
  • NP_001394849.1:p.Pro1342Ala
  • NP_001394850.1:p.Pro1342Ala
  • NP_001394851.1:p.Pro1342Ala
  • NP_001394852.1:p.Pro1342Ala
  • NP_001394853.1:p.Pro1342Ala
  • NP_001394854.1:p.Pro1342Ala
  • NP_001394855.1:p.Pro1342Ala
  • NP_001394856.1:p.Pro1342Ala
  • NP_001394857.1:p.Pro1342Ala
  • NP_001394858.1:p.Pro1342Ala
  • NP_001394859.1:p.Pro1341Ala
  • NP_001394860.1:p.Pro1341Ala
  • NP_001394861.1:p.Pro1341Ala
  • NP_001394862.1:p.Pro1341Ala
  • NP_001394863.1:p.Pro1340Ala
  • NP_001394864.1:p.Pro1341Ala
  • NP_001394865.1:p.Pro1341Ala
  • NP_001394866.1:p.Pro1389Ala
  • NP_001394867.1:p.Pro1389Ala
  • NP_001394868.1:p.Pro1389Ala
  • NP_001394869.1:p.Pro1388Ala
  • NP_001394870.1:p.Pro1388Ala
  • NP_001394871.1:p.Pro1383Ala
  • NP_001394872.1:p.Pro1382Ala
  • NP_001394873.1:p.Pro1383Ala
  • NP_001394874.1:p.Pro1383Ala
  • NP_001394875.1:p.Pro1319Ala
  • NP_001394876.1:p.Pro1319Ala
  • NP_001394877.1:p.Pro1319Ala
  • NP_001394878.1:p.Pro1319Ala
  • NP_001394879.1:p.Pro1319Ala
  • NP_001394880.1:p.Pro1319Ala
  • NP_001394881.1:p.Pro1318Ala
  • NP_001394882.1:p.Pro1318Ala
  • NP_001394883.1:p.Pro1318Ala
  • NP_001394884.1:p.Pro1318Ala
  • NP_001394885.1:p.Pro1317Ala
  • NP_001394886.1:p.Pro1318Ala
  • NP_001394887.1:p.Pro1318Ala
  • NP_001394888.1:p.Pro1303Ala
  • NP_001394889.1:p.Pro1303Ala
  • NP_001394891.1:p.Pro1302Ala
  • NP_001394892.1:p.Pro1302Ala
  • NP_001394893.1:p.Pro1382Ala
  • NP_001394894.1:p.Pro1261Ala
  • NP_001394895.1:p.Pro1134Ala
  • NP_001394896.1:p.Pro1134Ala
  • NP_001394897.1:p.Pro562Ala
  • NP_001394898.1:p.Pro561Ala
  • NP_001394899.1:p.Pro327Ala
  • NP_001394900.1:p.Pro327Ala
  • NP_001394901.1:p.Pro326Ala
  • NP_001394902.1:p.Pro327Ala
  • NP_001394903.1:p.Pro327Ala
  • NP_001394904.1:p.Pro327Ala
  • NP_001394905.1:p.Pro327Ala
  • NP_001394906.1:p.Pro327Ala
  • NP_001394907.1:p.Pro327Ala
  • NP_001394908.1:p.Pro326Ala
  • NP_001394909.1:p.Pro326Ala
  • NP_001394910.1:p.Pro326Ala
  • NP_001394911.1:p.Pro326Ala
  • NP_001394912.1:p.Pro326Ala
  • NP_001394913.1:p.Pro326Ala
  • NP_001394914.1:p.Pro326Ala
  • NP_001394915.1:p.Pro326Ala
  • NP_001394919.1:p.Pro326Ala
  • NP_001394920.1:p.Pro326Ala
  • NP_001394921.1:p.Pro326Ala
  • NP_001394922.1:p.Pro327Ala
  • NP_001395321.1:p.Pro326Ala
  • NP_001395325.1:p.Pro326Ala
  • NP_001395326.1:p.Pro326Ala
  • NP_001395327.1:p.Pro326Ala
  • NP_001395328.1:p.Pro326Ala
  • NP_001395329.1:p.Pro325Ala
  • NP_001395330.1:p.Pro325Ala
  • NP_001395331.1:p.Pro325Ala
  • NP_001395332.1:p.Pro326Ala
  • NP_001395333.1:p.Pro326Ala
  • NP_001395335.1:p.Pro324Ala
  • NP_001395336.1:p.Pro325Ala
  • NP_001395337.1:p.Pro324Ala
  • NP_001395338.1:p.Pro301Ala
  • NP_001395339.1:p.Pro280Ala
  • NP_001395340.1:p.Pro301Ala
  • NP_001395341.1:p.Pro301Ala
  • NP_001395342.1:p.Pro300Ala
  • NP_001395343.1:p.Pro301Ala
  • NP_001395344.1:p.Pro301Ala
  • NP_001395345.1:p.Pro300Ala
  • NP_001395347.1:p.Pro288Ala
  • NP_001395348.1:p.Pro288Ala
  • NP_001395349.1:p.Pro288Ala
  • NP_001395350.1:p.Pro287Ala
  • NP_001395351.1:p.Pro288Ala
  • NP_001395352.1:p.Pro288Ala
  • NP_001395353.1:p.Pro287Ala
  • NP_001395354.1:p.Pro286Ala
  • NP_001395355.1:p.Pro286Ala
  • NP_001395356.1:p.Pro286Ala
  • NP_001395357.1:p.Pro286Ala
  • NP_001395358.1:p.Pro286Ala
  • NP_001395359.1:p.Pro286Ala
  • NP_001395360.1:p.Pro287Ala
  • NP_001395361.1:p.Pro285Ala
  • NP_001395362.1:p.Pro285Ala
  • NP_001395363.1:p.Pro285Ala
  • NP_001395364.1:p.Pro285Ala
  • NP_001395365.1:p.Pro286Ala
  • NP_001395366.1:p.Pro286Ala
  • NP_001395367.1:p.Pro286Ala
  • NP_001395368.1:p.Pro286Ala
  • NP_001395369.1:p.Pro286Ala
  • NP_001395370.1:p.Pro285Ala
  • NP_001395371.1:p.Pro285Ala
  • NP_001395372.1:p.Pro285Ala
  • NP_001395373.1:p.Pro285Ala
  • NP_001395374.1:p.Pro285Ala
  • NP_001395375.1:p.Pro285Ala
  • NP_001395376.1:p.Pro285Ala
  • NP_001395377.1:p.Pro285Ala
  • NP_001395379.1:p.Pro285Ala
  • NP_001395380.1:p.Pro282Ala
  • NP_001395381.1:p.Pro280Ala
  • NP_001395382.1:p.Pro280Ala
  • NP_001395383.1:p.Pro280Ala
  • NP_001395384.1:p.Pro280Ala
  • NP_001395385.1:p.Pro280Ala
  • NP_001395386.1:p.Pro280Ala
  • NP_001395387.1:p.Pro280Ala
  • NP_001395388.1:p.Pro280Ala
  • NP_001395389.1:p.Pro280Ala
  • NP_001395390.1:p.Pro280Ala
  • NP_001395391.1:p.Pro279Ala
  • NP_001395392.1:p.Pro279Ala
  • NP_001395393.1:p.Pro279Ala
  • NP_001395394.1:p.Pro279Ala
  • NP_001395395.1:p.Pro279Ala
  • NP_001395396.1:p.Pro279Ala
  • NP_001395397.1:p.Pro279Ala
  • NP_001395398.1:p.Pro279Ala
  • NP_001395399.1:p.Pro278Ala
  • NP_001395401.1:p.Pro326Ala
  • NP_001395402.1:p.Pro326Ala
  • NP_001395403.1:p.Pro260Ala
  • NP_001395404.1:p.Pro259Ala
  • NP_001395405.1:p.Pro260Ala
  • NP_001395407.1:p.Pro257Ala
  • NP_001395408.1:p.Pro257Ala
  • NP_001395409.1:p.Pro257Ala
  • NP_001395410.1:p.Pro257Ala
  • NP_001395411.1:p.Pro257Ala
  • NP_001395412.1:p.Pro257Ala
  • NP_001395413.1:p.Pro257Ala
  • NP_001395414.1:p.Pro257Ala
  • NP_001395418.1:p.Pro256Ala
  • NP_001395419.1:p.Pro256Ala
  • NP_001395420.1:p.Pro256Ala
  • NP_001395421.1:p.Pro256Ala
  • NP_001395422.1:p.Pro256Ala
  • NP_001395423.1:p.Pro247Ala
  • NP_001395424.1:p.Pro246Ala
  • NP_001395425.1:p.Pro239Ala
  • NP_001395426.1:p.Pro239Ala
  • NP_001395427.1:p.Pro239Ala
  • NP_001395428.1:p.Pro239Ala
  • NP_001395429.1:p.Pro239Ala
  • NP_001395430.1:p.Pro239Ala
  • NP_001395431.1:p.Pro216Ala
  • NP_001395432.1:p.Pro238Ala
  • NP_001395433.1:p.Pro238Ala
  • NP_001395434.1:p.Pro238Ala
  • NP_001395435.1:p.Pro218Ala
  • NP_001395436.1:p.Pro217Ala
  • NP_001395437.1:p.Pro214Ala
  • NP_001395438.1:p.Pro214Ala
  • NP_001395439.1:p.Pro200Ala
  • NP_001395440.1:p.Pro199Ala
  • NP_001395441.1:p.Pro159Ala
  • NP_001395442.1:p.Pro256Ala
  • NP_001395443.1:p.Pro257Ala
  • NP_009225.1:p.Pro1430Ala
  • NP_009225.1:p.Pro1430Ala
  • NP_009228.2:p.Pro1383Ala
  • NP_009229.2:p.Pro327Ala
  • NP_009229.2:p.Pro327Ala
  • NP_009230.2:p.Pro327Ala
  • NP_009231.2:p.Pro1430Ala
  • NP_009235.2:p.Pro327Ala
  • LRG_292t1:c.4288C>G
  • LRG_292:g.135511C>G
  • LRG_292p1:p.Pro1430Ala
  • NC_000017.10:g.41234490G>C
  • NM_007294.3:c.4288C>G
  • NM_007298.3:c.979C>G
  • NR_027676.2:n.4465C>G
Protein change:
P1134A
Links:
dbSNP: rs80357466
NCBI 1000 Genomes Browser:
rs80357466
Molecular consequence:
  • NM_001407571.1:c.4075C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4282C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4282C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4282C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4282C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4282C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4282C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4282C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4282C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4276C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4276C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4165C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4162C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4210C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4210C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4210C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4207C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4210C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4210C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4204C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4204C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4207C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4207C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4207C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4165C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4165C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4165C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4165C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4165C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4165C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4162C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4162C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4162C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4162C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4162C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4162C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4162C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4165C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4165C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4165C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4165C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4162C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4162C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4162C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4159C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4159C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4159C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4162C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4162C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4159C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4159C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4141C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4141C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4141C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4075C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4285C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4087C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4165C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4084C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4084C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4078C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4078C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4078C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4078C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4078C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4078C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4078C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4078C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4075C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4075C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4075C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4075C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4075C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4075C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4078C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4078C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4078C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4078C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4075C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4075C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4075C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4075C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4072C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4075C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4075C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4075C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4165C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4024C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4024C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4024C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4024C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4024C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4024C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4024C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4024C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4024C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4024C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4021C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4021C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4021C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4021C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4018C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4021C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4021C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4165C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4165C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4165C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4162C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4162C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3955C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3955C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3955C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3955C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3955C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3955C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3952C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3952C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3952C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3952C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3949C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3952C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3952C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3907C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3907C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3904C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3904C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4144C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3781C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3400C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3400C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1684C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1681C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.979C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.979C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.979C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.979C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.979C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.979C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.979C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.979C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.979C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.973C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.973C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.973C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.970C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.973C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.970C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.901C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.838C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.901C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.901C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.898C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.901C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.901C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.898C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.862C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.862C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.862C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.859C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.862C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.862C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.859C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.856C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.856C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.856C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.856C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.856C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.856C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.859C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.853C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.853C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.853C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.853C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.856C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.856C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.856C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.856C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.856C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.853C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.853C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.853C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.853C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.853C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.853C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.853C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.853C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.853C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.844C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.838C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.838C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.838C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.838C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.838C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.838C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.838C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.838C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.838C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.838C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.835C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.835C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.835C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.835C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.835C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.835C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.835C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.835C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.832C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.976C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.778C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.775C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.778C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.769C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.769C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.769C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.769C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.769C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.769C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.769C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.769C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.766C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.766C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.766C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.766C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.766C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.739C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.736C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.715C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.715C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.715C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.715C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.715C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.715C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.646C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.712C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.712C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.712C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.652C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.649C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.640C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.640C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.598C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.595C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.475C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.766C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.769C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4147C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.979C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.979C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.979C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4465C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000904261Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 15, 2019) 		germlineclinical testing

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

SCV002629598Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 1, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000904261.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Ambry Genetics, SCV002629598.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.P1430A variant (also known as c.4288C>G), located in coding exon 11 of the BRCA1 gene, results from a C to G substitution at nucleotide position 4288. The proline at codon 1430 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and alanine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024