NM_007294.4(BRCA1):c.4092C>T (p.Asn1364=) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 29, 2017
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000494837.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.4092C>T (p.Asn1364=)]

NM_007294.4(BRCA1):c.4092C>T (p.Asn1364=)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.4092C>T (p.Asn1364=)

HGVS:

NC_000017.11:g.43091439G>A
NG_005905.2:g.126545C>T
NG_087068.1:g.421G>A
NM_001407571.1:c.3879C>T
NM_001407581.1:c.4092C>T
NM_001407582.1:c.4092C>T
NM_001407583.1:c.4092C>T
NM_001407585.1:c.4092C>T
NM_001407587.1:c.4089C>T
NM_001407590.1:c.4089C>T
NM_001407591.1:c.4089C>T
NM_001407593.1:c.4092C>T
NM_001407594.1:c.4092C>T
NM_001407596.1:c.4092C>T
NM_001407597.1:c.4092C>T
NM_001407598.1:c.4092C>T
NM_001407602.1:c.4092C>T
NM_001407603.1:c.4092C>T
NM_001407605.1:c.4092C>T
NM_001407610.1:c.4089C>T
NM_001407611.1:c.4089C>T
NM_001407612.1:c.4089C>T
NM_001407613.1:c.4089C>T
NM_001407614.1:c.4089C>T
NM_001407615.1:c.4089C>T
NM_001407616.1:c.4092C>T
NM_001407617.1:c.4092C>T
NM_001407618.1:c.4092C>T
NM_001407619.1:c.4092C>T
NM_001407620.1:c.4092C>T
NM_001407621.1:c.4092C>T
NM_001407622.1:c.4092C>T
NM_001407623.1:c.4092C>T
NM_001407624.1:c.4092C>T
NM_001407625.1:c.4092C>T
NM_001407626.1:c.4092C>T
NM_001407627.1:c.4089C>T
NM_001407628.1:c.4089C>T
NM_001407629.1:c.4089C>T
NM_001407630.1:c.4089C>T
NM_001407631.1:c.4089C>T
NM_001407632.1:c.4089C>T
NM_001407633.1:c.4089C>T
NM_001407634.1:c.4089C>T
NM_001407635.1:c.4089C>T
NM_001407636.1:c.4089C>T
NM_001407637.1:c.4089C>T
NM_001407638.1:c.4089C>T
NM_001407639.1:c.4092C>T
NM_001407640.1:c.4092C>T
NM_001407641.1:c.4092C>T
NM_001407642.1:c.4092C>T
NM_001407644.1:c.4089C>T
NM_001407645.1:c.4089C>T
NM_001407646.1:c.4083C>T
NM_001407647.1:c.4083C>T
NM_001407648.1:c.3969C>T
NM_001407649.1:c.3966C>T
NM_001407652.1:c.4092C>T
NM_001407653.1:c.4014C>T
NM_001407654.1:c.4014C>T
NM_001407655.1:c.4014C>T
NM_001407656.1:c.4014C>T
NM_001407657.1:c.4014C>T
NM_001407658.1:c.4014C>T
NM_001407659.1:c.4011C>T
NM_001407660.1:c.4011C>T
NM_001407661.1:c.4011C>T
NM_001407662.1:c.4011C>T
NM_001407663.1:c.4014C>T
NM_001407664.1:c.3969C>T
NM_001407665.1:c.3969C>T
NM_001407666.1:c.3969C>T
NM_001407667.1:c.3969C>T
NM_001407668.1:c.3969C>T
NM_001407669.1:c.3969C>T
NM_001407670.1:c.3966C>T
NM_001407671.1:c.3966C>T
NM_001407672.1:c.3966C>T
NM_001407673.1:c.3966C>T
NM_001407674.1:c.3969C>T
NM_001407675.1:c.3969C>T
NM_001407676.1:c.3969C>T
NM_001407677.1:c.3969C>T
NM_001407678.1:c.3969C>T
NM_001407679.1:c.3969C>T
NM_001407680.1:c.3969C>T
NM_001407681.1:c.3969C>T
NM_001407682.1:c.3969C>T
NM_001407683.1:c.3969C>T
NM_001407684.1:c.4092C>T
NM_001407685.1:c.3966C>T
NM_001407686.1:c.3966C>T
NM_001407687.1:c.3966C>T
NM_001407688.1:c.3966C>T
NM_001407689.1:c.3966C>T
NM_001407690.1:c.3966C>T
NM_001407691.1:c.3966C>T
NM_001407692.1:c.3951C>T
NM_001407694.1:c.3951C>T
NM_001407695.1:c.3951C>T
NM_001407696.1:c.3951C>T
NM_001407697.1:c.3951C>T
NM_001407698.1:c.3951C>T
NM_001407724.1:c.3951C>T
NM_001407725.1:c.3951C>T
NM_001407726.1:c.3951C>T
NM_001407727.1:c.3951C>T
NM_001407728.1:c.3951C>T
NM_001407729.1:c.3951C>T
NM_001407730.1:c.3951C>T
NM_001407731.1:c.3951C>T
NM_001407732.1:c.3951C>T
NM_001407733.1:c.3951C>T
NM_001407734.1:c.3951C>T
NM_001407735.1:c.3951C>T
NM_001407736.1:c.3951C>T
NM_001407737.1:c.3951C>T
NM_001407738.1:c.3951C>T
NM_001407739.1:c.3951C>T
NM_001407740.1:c.3948C>T
NM_001407741.1:c.3948C>T
NM_001407742.1:c.3948C>T
NM_001407743.1:c.3948C>T
NM_001407744.1:c.3948C>T
NM_001407745.1:c.3948C>T
NM_001407746.1:c.3948C>T
NM_001407747.1:c.3948C>T
NM_001407748.1:c.3948C>T
NM_001407749.1:c.3948C>T
NM_001407750.1:c.3951C>T
NM_001407751.1:c.3951C>T
NM_001407752.1:c.3951C>T
NM_001407838.1:c.3948C>T
NM_001407839.1:c.3948C>T
NM_001407841.1:c.3948C>T
NM_001407842.1:c.3948C>T
NM_001407843.1:c.3948C>T
NM_001407844.1:c.3948C>T
NM_001407845.1:c.3948C>T
NM_001407846.1:c.3948C>T
NM_001407847.1:c.3948C>T
NM_001407848.1:c.3948C>T
NM_001407849.1:c.3948C>T
NM_001407850.1:c.3951C>T
NM_001407851.1:c.3951C>T
NM_001407852.1:c.3951C>T
NM_001407853.1:c.3879C>T
NM_001407854.1:c.4092C>T
NM_001407858.1:c.4092C>T
NM_001407859.1:c.4092C>T
NM_001407860.1:c.4089C>T
NM_001407861.1:c.4089C>T
NM_001407862.1:c.3891C>T
NM_001407863.1:c.3969C>T
NM_001407874.1:c.3888C>T
NM_001407875.1:c.3888C>T
NM_001407879.1:c.3882C>T
NM_001407881.1:c.3882C>T
NM_001407882.1:c.3882C>T
NM_001407884.1:c.3882C>T
NM_001407885.1:c.3882C>T
NM_001407886.1:c.3882C>T
NM_001407887.1:c.3882C>T
NM_001407889.1:c.3882C>T
NM_001407894.1:c.3879C>T
NM_001407895.1:c.3879C>T
NM_001407896.1:c.3879C>T
NM_001407897.1:c.3879C>T
NM_001407898.1:c.3879C>T
NM_001407899.1:c.3879C>T
NM_001407900.1:c.3882C>T
NM_001407902.1:c.3882C>T
NM_001407904.1:c.3882C>T
NM_001407906.1:c.3882C>T
NM_001407907.1:c.3882C>T
NM_001407908.1:c.3882C>T
NM_001407909.1:c.3882C>T
NM_001407910.1:c.3882C>T
NM_001407915.1:c.3879C>T
NM_001407916.1:c.3879C>T
NM_001407917.1:c.3879C>T
NM_001407918.1:c.3879C>T
NM_001407919.1:c.3969C>T
NM_001407920.1:c.3828C>T
NM_001407921.1:c.3828C>T
NM_001407922.1:c.3828C>T
NM_001407923.1:c.3828C>T
NM_001407924.1:c.3828C>T
NM_001407925.1:c.3828C>T
NM_001407926.1:c.3828C>T
NM_001407927.1:c.3828C>T
NM_001407928.1:c.3828C>T
NM_001407929.1:c.3828C>T
NM_001407930.1:c.3825C>T
NM_001407931.1:c.3825C>T
NM_001407932.1:c.3825C>T
NM_001407933.1:c.3828C>T
NM_001407934.1:c.3825C>T
NM_001407935.1:c.3828C>T
NM_001407936.1:c.3825C>T
NM_001407937.1:c.3969C>T
NM_001407938.1:c.3969C>T
NM_001407939.1:c.3969C>T
NM_001407940.1:c.3966C>T
NM_001407941.1:c.3966C>T
NM_001407942.1:c.3951C>T
NM_001407943.1:c.3948C>T
NM_001407944.1:c.3951C>T
NM_001407945.1:c.3951C>T
NM_001407946.1:c.3759C>T
NM_001407947.1:c.3759C>T
NM_001407948.1:c.3759C>T
NM_001407949.1:c.3759C>T
NM_001407950.1:c.3759C>T
NM_001407951.1:c.3759C>T
NM_001407952.1:c.3759C>T
NM_001407953.1:c.3759C>T
NM_001407954.1:c.3756C>T
NM_001407955.1:c.3756C>T
NM_001407956.1:c.3756C>T
NM_001407957.1:c.3759C>T
NM_001407958.1:c.3756C>T
NM_001407959.1:c.3711C>T
NM_001407960.1:c.3711C>T
NM_001407962.1:c.3708C>T
NM_001407963.1:c.3711C>T
NM_001407964.1:c.3948C>T
NM_001407965.1:c.3588C>T
NM_001407966.1:c.3204C>T
NM_001407967.1:c.3204C>T
NM_001407968.1:c.1488C>T
NM_001407969.1:c.1488C>T
NM_001407970.1:c.788-407C>T
NM_001407971.1:c.788-407C>T
NM_001407972.1:c.785-407C>T
NM_001407973.1:c.788-407C>T
NM_001407974.1:c.788-407C>T
NM_001407975.1:c.788-407C>T
NM_001407976.1:c.788-407C>T
NM_001407977.1:c.788-407C>T
NM_001407978.1:c.788-407C>T
NM_001407979.1:c.788-407C>T
NM_001407980.1:c.788-407C>T
NM_001407981.1:c.788-407C>T
NM_001407982.1:c.788-407C>T
NM_001407983.1:c.788-407C>T
NM_001407984.1:c.785-407C>T
NM_001407985.1:c.785-407C>T
NM_001407986.1:c.785-407C>T
NM_001407990.1:c.788-407C>T
NM_001407991.1:c.785-407C>T
NM_001407992.1:c.785-407C>T
NM_001407993.1:c.788-407C>T
NM_001408392.1:c.785-407C>T
NM_001408396.1:c.785-407C>T
NM_001408397.1:c.785-407C>T
NM_001408398.1:c.785-407C>T
NM_001408399.1:c.785-407C>T
NM_001408400.1:c.785-407C>T
NM_001408401.1:c.785-407C>T
NM_001408402.1:c.785-407C>T
NM_001408403.1:c.788-407C>T
NM_001408404.1:c.788-407C>T
NM_001408406.1:c.791-416C>T
NM_001408407.1:c.785-407C>T
NM_001408408.1:c.779-407C>T
NM_001408409.1:c.710-407C>T
NM_001408410.1:c.647-407C>T
NM_001408411.1:c.710-407C>T
NM_001408412.1:c.710-407C>T
NM_001408413.1:c.707-407C>T
NM_001408414.1:c.710-407C>T
NM_001408415.1:c.710-407C>T
NM_001408416.1:c.707-407C>T
NM_001408418.1:c.671-407C>T
NM_001408419.1:c.671-407C>T
NM_001408420.1:c.671-407C>T
NM_001408421.1:c.668-407C>T
NM_001408422.1:c.671-407C>T
NM_001408423.1:c.671-407C>T
NM_001408424.1:c.668-407C>T
NM_001408425.1:c.665-407C>T
NM_001408426.1:c.665-407C>T
NM_001408427.1:c.665-407C>T
NM_001408428.1:c.665-407C>T
NM_001408429.1:c.665-407C>T
NM_001408430.1:c.665-407C>T
NM_001408431.1:c.668-407C>T
NM_001408432.1:c.662-407C>T
NM_001408433.1:c.662-407C>T
NM_001408434.1:c.662-407C>T
NM_001408435.1:c.662-407C>T
NM_001408436.1:c.665-407C>T
NM_001408437.1:c.665-407C>T
NM_001408438.1:c.665-407C>T
NM_001408439.1:c.665-407C>T
NM_001408440.1:c.665-407C>T
NM_001408441.1:c.665-407C>T
NM_001408442.1:c.665-407C>T
NM_001408443.1:c.665-407C>T
NM_001408444.1:c.665-407C>T
NM_001408445.1:c.662-407C>T
NM_001408446.1:c.662-407C>T
NM_001408447.1:c.662-407C>T
NM_001408448.1:c.662-407C>T
NM_001408450.1:c.662-407C>T
NM_001408451.1:c.653-407C>T
NM_001408452.1:c.647-407C>T
NM_001408453.1:c.647-407C>T
NM_001408454.1:c.647-407C>T
NM_001408455.1:c.647-407C>T
NM_001408456.1:c.647-407C>T
NM_001408457.1:c.647-407C>T
NM_001408458.1:c.647-407C>T
NM_001408459.1:c.647-407C>T
NM_001408460.1:c.647-407C>T
NM_001408461.1:c.647-407C>T
NM_001408462.1:c.644-407C>T
NM_001408463.1:c.644-407C>T
NM_001408464.1:c.644-407C>T
NM_001408465.1:c.644-407C>T
NM_001408466.1:c.647-407C>T
NM_001408467.1:c.647-407C>T
NM_001408468.1:c.644-407C>T
NM_001408469.1:c.647-407C>T
NM_001408470.1:c.644-407C>T
NM_001408472.1:c.788-407C>T
NM_001408473.1:c.785-407C>T
NM_001408474.1:c.587-407C>T
NM_001408475.1:c.584-407C>T
NM_001408476.1:c.587-407C>T
NM_001408478.1:c.578-407C>T
NM_001408479.1:c.578-407C>T
NM_001408480.1:c.578-407C>T
NM_001408481.1:c.578-407C>T
NM_001408482.1:c.578-407C>T
NM_001408483.1:c.578-407C>T
NM_001408484.1:c.578-407C>T
NM_001408485.1:c.578-407C>T
NM_001408489.1:c.578-407C>T
NM_001408490.1:c.575-407C>T
NM_001408491.1:c.575-407C>T
NM_001408492.1:c.578-407C>T
NM_001408493.1:c.575-407C>T
NM_001408494.1:c.548-407C>T
NM_001408495.1:c.545-407C>T
NM_001408496.1:c.524-407C>T
NM_001408497.1:c.524-407C>T
NM_001408498.1:c.524-407C>T
NM_001408499.1:c.524-407C>T
NM_001408500.1:c.524-407C>T
NM_001408501.1:c.524-407C>T
NM_001408502.1:c.455-407C>T
NM_001408503.1:c.521-407C>T
NM_001408504.1:c.521-407C>T
NM_001408505.1:c.521-407C>T
NM_001408506.1:c.461-407C>T
NM_001408507.1:c.461-407C>T
NM_001408508.1:c.452-407C>T
NM_001408509.1:c.452-407C>T
NM_001408510.1:c.407-407C>T
NM_001408511.1:c.404-407C>T
NM_001408512.1:c.284-407C>T
NM_001408513.1:c.578-407C>T
NM_001408514.1:c.578-407C>T
NM_007294.4:c.4092C>TMANE SELECT
NM_007297.4:c.3951C>T
NM_007298.4:c.788-407C>T
NM_007299.4:c.788-407C>T
NM_007300.4:c.4092C>T
NP_001394500.1:p.Asn1293=
NP_001394510.1:p.Asn1364=
NP_001394511.1:p.Asn1364=
NP_001394512.1:p.Asn1364=
NP_001394514.1:p.Asn1364=
NP_001394516.1:p.Asn1363=
NP_001394519.1:p.Asn1363=
NP_001394520.1:p.Asn1363=
NP_001394522.1:p.Asn1364=
NP_001394523.1:p.Asn1364=
NP_001394525.1:p.Asn1364=
NP_001394526.1:p.Asn1364=
NP_001394527.1:p.Asn1364=
NP_001394531.1:p.Asn1364=
NP_001394532.1:p.Asn1364=
NP_001394534.1:p.Asn1364=
NP_001394539.1:p.Asn1363=
NP_001394540.1:p.Asn1363=
NP_001394541.1:p.Asn1363=
NP_001394542.1:p.Asn1363=
NP_001394543.1:p.Asn1363=
NP_001394544.1:p.Asn1363=
NP_001394545.1:p.Asn1364=
NP_001394546.1:p.Asn1364=
NP_001394547.1:p.Asn1364=
NP_001394548.1:p.Asn1364=
NP_001394549.1:p.Asn1364=
NP_001394550.1:p.Asn1364=
NP_001394551.1:p.Asn1364=
NP_001394552.1:p.Asn1364=
NP_001394553.1:p.Asn1364=
NP_001394554.1:p.Asn1364=
NP_001394555.1:p.Asn1364=
NP_001394556.1:p.Asn1363=
NP_001394557.1:p.Asn1363=
NP_001394558.1:p.Asn1363=
NP_001394559.1:p.Asn1363=
NP_001394560.1:p.Asn1363=
NP_001394561.1:p.Asn1363=
NP_001394562.1:p.Asn1363=
NP_001394563.1:p.Asn1363=
NP_001394564.1:p.Asn1363=
NP_001394565.1:p.Asn1363=
NP_001394566.1:p.Asn1363=
NP_001394567.1:p.Asn1363=
NP_001394568.1:p.Asn1364=
NP_001394569.1:p.Asn1364=
NP_001394570.1:p.Asn1364=
NP_001394571.1:p.Asn1364=
NP_001394573.1:p.Asn1363=
NP_001394574.1:p.Asn1363=
NP_001394575.1:p.Asn1361=
NP_001394576.1:p.Asn1361=
NP_001394577.1:p.Asn1323=
NP_001394578.1:p.Asn1322=
NP_001394581.1:p.Asn1364=
NP_001394582.1:p.Asn1338=
NP_001394583.1:p.Asn1338=
NP_001394584.1:p.Asn1338=
NP_001394585.1:p.Asn1338=
NP_001394586.1:p.Asn1338=
NP_001394587.1:p.Asn1338=
NP_001394588.1:p.Asn1337=
NP_001394589.1:p.Asn1337=
NP_001394590.1:p.Asn1337=
NP_001394591.1:p.Asn1337=
NP_001394592.1:p.Asn1338=
NP_001394593.1:p.Asn1323=
NP_001394594.1:p.Asn1323=
NP_001394595.1:p.Asn1323=
NP_001394596.1:p.Asn1323=
NP_001394597.1:p.Asn1323=
NP_001394598.1:p.Asn1323=
NP_001394599.1:p.Asn1322=
NP_001394600.1:p.Asn1322=
NP_001394601.1:p.Asn1322=
NP_001394602.1:p.Asn1322=
NP_001394603.1:p.Asn1323=
NP_001394604.1:p.Asn1323=
NP_001394605.1:p.Asn1323=
NP_001394606.1:p.Asn1323=
NP_001394607.1:p.Asn1323=
NP_001394608.1:p.Asn1323=
NP_001394609.1:p.Asn1323=
NP_001394610.1:p.Asn1323=
NP_001394611.1:p.Asn1323=
NP_001394612.1:p.Asn1323=
NP_001394613.1:p.Asn1364=
NP_001394614.1:p.Asn1322=
NP_001394615.1:p.Asn1322=
NP_001394616.1:p.Asn1322=
NP_001394617.1:p.Asn1322=
NP_001394618.1:p.Asn1322=
NP_001394619.1:p.Asn1322=
NP_001394620.1:p.Asn1322=
NP_001394621.1:p.Asn1317=
NP_001394623.1:p.Asn1317=
NP_001394624.1:p.Asn1317=
NP_001394625.1:p.Asn1317=
NP_001394626.1:p.Asn1317=
NP_001394627.1:p.Asn1317=
NP_001394653.1:p.Asn1317=
NP_001394654.1:p.Asn1317=
NP_001394655.1:p.Asn1317=
NP_001394656.1:p.Asn1317=
NP_001394657.1:p.Asn1317=
NP_001394658.1:p.Asn1317=
NP_001394659.1:p.Asn1317=
NP_001394660.1:p.Asn1317=
NP_001394661.1:p.Asn1317=
NP_001394662.1:p.Asn1317=
NP_001394663.1:p.Asn1317=
NP_001394664.1:p.Asn1317=
NP_001394665.1:p.Asn1317=
NP_001394666.1:p.Asn1317=
NP_001394667.1:p.Asn1317=
NP_001394668.1:p.Asn1317=
NP_001394669.1:p.Asn1316=
NP_001394670.1:p.Asn1316=
NP_001394671.1:p.Asn1316=
NP_001394672.1:p.Asn1316=
NP_001394673.1:p.Asn1316=
NP_001394674.1:p.Asn1316=
NP_001394675.1:p.Asn1316=
NP_001394676.1:p.Asn1316=
NP_001394677.1:p.Asn1316=
NP_001394678.1:p.Asn1316=
NP_001394679.1:p.Asn1317=
NP_001394680.1:p.Asn1317=
NP_001394681.1:p.Asn1317=
NP_001394767.1:p.Asn1316=
NP_001394768.1:p.Asn1316=
NP_001394770.1:p.Asn1316=
NP_001394771.1:p.Asn1316=
NP_001394772.1:p.Asn1316=
NP_001394773.1:p.Asn1316=
NP_001394774.1:p.Asn1316=
NP_001394775.1:p.Asn1316=
NP_001394776.1:p.Asn1316=
NP_001394777.1:p.Asn1316=
NP_001394778.1:p.Asn1316=
NP_001394779.1:p.Asn1317=
NP_001394780.1:p.Asn1317=
NP_001394781.1:p.Asn1317=
NP_001394782.1:p.Asn1293=
NP_001394783.1:p.Asn1364=
NP_001394787.1:p.Asn1364=
NP_001394788.1:p.Asn1364=
NP_001394789.1:p.Asn1363=
NP_001394790.1:p.Asn1363=
NP_001394791.1:p.Asn1297=
NP_001394792.1:p.Asn1323=
NP_001394803.1:p.Asn1296=
NP_001394804.1:p.Asn1296=
NP_001394808.1:p.Asn1294=
NP_001394810.1:p.Asn1294=
NP_001394811.1:p.Asn1294=
NP_001394813.1:p.Asn1294=
NP_001394814.1:p.Asn1294=
NP_001394815.1:p.Asn1294=
NP_001394816.1:p.Asn1294=
NP_001394818.1:p.Asn1294=
NP_001394823.1:p.Asn1293=
NP_001394824.1:p.Asn1293=
NP_001394825.1:p.Asn1293=
NP_001394826.1:p.Asn1293=
NP_001394827.1:p.Asn1293=
NP_001394828.1:p.Asn1293=
NP_001394829.1:p.Asn1294=
NP_001394831.1:p.Asn1294=
NP_001394833.1:p.Asn1294=
NP_001394835.1:p.Asn1294=
NP_001394836.1:p.Asn1294=
NP_001394837.1:p.Asn1294=
NP_001394838.1:p.Asn1294=
NP_001394839.1:p.Asn1294=
NP_001394844.1:p.Asn1293=
NP_001394845.1:p.Asn1293=
NP_001394846.1:p.Asn1293=
NP_001394847.1:p.Asn1293=
NP_001394848.1:p.Asn1323=
NP_001394849.1:p.Asn1276=
NP_001394850.1:p.Asn1276=
NP_001394851.1:p.Asn1276=
NP_001394852.1:p.Asn1276=
NP_001394853.1:p.Asn1276=
NP_001394854.1:p.Asn1276=
NP_001394855.1:p.Asn1276=
NP_001394856.1:p.Asn1276=
NP_001394857.1:p.Asn1276=
NP_001394858.1:p.Asn1276=
NP_001394859.1:p.Asn1275=
NP_001394860.1:p.Asn1275=
NP_001394861.1:p.Asn1275=
NP_001394862.1:p.Asn1276=
NP_001394863.1:p.Asn1275=
NP_001394864.1:p.Asn1276=
NP_001394865.1:p.Asn1275=
NP_001394866.1:p.Asn1323=
NP_001394867.1:p.Asn1323=
NP_001394868.1:p.Asn1323=
NP_001394869.1:p.Asn1322=
NP_001394870.1:p.Asn1322=
NP_001394871.1:p.Asn1317=
NP_001394872.1:p.Asn1316=
NP_001394873.1:p.Asn1317=
NP_001394874.1:p.Asn1317=
NP_001394875.1:p.Asn1253=
NP_001394876.1:p.Asn1253=
NP_001394877.1:p.Asn1253=
NP_001394878.1:p.Asn1253=
NP_001394879.1:p.Asn1253=
NP_001394880.1:p.Asn1253=
NP_001394881.1:p.Asn1253=
NP_001394882.1:p.Asn1253=
NP_001394883.1:p.Asn1252=
NP_001394884.1:p.Asn1252=
NP_001394885.1:p.Asn1252=
NP_001394886.1:p.Asn1253=
NP_001394887.1:p.Asn1252=
NP_001394888.1:p.Asn1237=
NP_001394889.1:p.Asn1237=
NP_001394891.1:p.Asn1236=
NP_001394892.1:p.Asn1237=
NP_001394893.1:p.Asn1316=
NP_001394894.1:p.Asn1196=
NP_001394895.1:p.Asn1068=
NP_001394896.1:p.Asn1068=
NP_001394897.1:p.Asn496=
NP_001394898.1:p.Asn496=
NP_009225.1:p.Asn1364=
NP_009225.1:p.Asn1364=
NP_009228.2:p.Asn1317=
NP_009231.2:p.Asn1364=
LRG_292t1:c.4092C>T
LRG_292:g.126545C>T
LRG_292p1:p.Asn1364=
NC_000017.10:g.41243456G>A
NM_007294.3:c.4092C>T
NR_027676.2:n.4269C>T
p.N1364N

Links:

dbSNP: rs786201566

NCBI 1000 Genomes Browser:

rs786201566

Molecular consequence:

NM_001407970.1:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-416C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-407C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407581.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407582.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407583.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407585.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407587.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407590.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407591.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407593.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407594.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407596.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407597.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407598.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407602.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407603.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407605.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407610.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407611.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407612.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407613.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407614.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407615.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407616.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407617.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407618.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407619.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407620.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407621.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407622.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407623.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407624.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407625.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407626.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407627.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407628.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407629.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407630.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407631.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407632.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407633.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407634.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407635.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407636.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407637.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407638.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407639.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407640.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407641.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407642.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407644.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407645.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407646.1:c.4083C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407647.1:c.4083C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407648.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407649.1:c.3966C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407652.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407653.1:c.4014C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407654.1:c.4014C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407655.1:c.4014C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407656.1:c.4014C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407657.1:c.4014C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407658.1:c.4014C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407659.1:c.4011C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407660.1:c.4011C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407661.1:c.4011C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407662.1:c.4011C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407663.1:c.4014C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407664.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407665.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407666.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407667.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407668.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407669.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407670.1:c.3966C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407671.1:c.3966C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407672.1:c.3966C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407673.1:c.3966C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407674.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407675.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407676.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407677.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407678.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407679.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407680.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407681.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407682.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407683.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407684.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407685.1:c.3966C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407686.1:c.3966C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407687.1:c.3966C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407688.1:c.3966C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407689.1:c.3966C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407690.1:c.3966C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407691.1:c.3966C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407692.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407694.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407695.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407696.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407697.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407698.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407724.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407725.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407726.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407727.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407728.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407729.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407730.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407731.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407732.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407733.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407734.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407735.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407736.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407737.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407738.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407739.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407740.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407741.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407742.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407743.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407744.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407745.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407746.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407747.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407748.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407749.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407750.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407751.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407752.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407838.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407839.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407841.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407842.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407843.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407844.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407845.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407846.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407847.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407848.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407849.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407850.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407851.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407852.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407853.1:c.3879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407854.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407858.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407859.1:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407860.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407861.1:c.4089C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407862.1:c.3891C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407863.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407874.1:c.3888C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407875.1:c.3888C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407879.1:c.3882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407881.1:c.3882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407882.1:c.3882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407884.1:c.3882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407885.1:c.3882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407886.1:c.3882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407887.1:c.3882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407889.1:c.3882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407894.1:c.3879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407895.1:c.3879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407896.1:c.3879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407897.1:c.3879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407898.1:c.3879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407899.1:c.3879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407900.1:c.3882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407902.1:c.3882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407904.1:c.3882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407906.1:c.3882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407907.1:c.3882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407908.1:c.3882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407909.1:c.3882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407910.1:c.3882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407915.1:c.3879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407916.1:c.3879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407917.1:c.3879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407918.1:c.3879C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407919.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407920.1:c.3828C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407921.1:c.3828C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407922.1:c.3828C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407923.1:c.3828C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407924.1:c.3828C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407925.1:c.3828C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407926.1:c.3828C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407927.1:c.3828C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407928.1:c.3828C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407929.1:c.3828C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407930.1:c.3825C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407931.1:c.3825C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407932.1:c.3825C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407933.1:c.3828C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407934.1:c.3825C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407935.1:c.3828C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407936.1:c.3825C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407937.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407938.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407939.1:c.3969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407940.1:c.3966C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407941.1:c.3966C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407942.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407943.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407944.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407945.1:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407946.1:c.3759C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407947.1:c.3759C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407948.1:c.3759C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407949.1:c.3759C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407950.1:c.3759C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407951.1:c.3759C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407952.1:c.3759C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407953.1:c.3759C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407954.1:c.3756C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407955.1:c.3756C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407956.1:c.3756C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407957.1:c.3759C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407958.1:c.3756C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407959.1:c.3711C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407960.1:c.3711C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407962.1:c.3708C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407963.1:c.3711C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407964.1:c.3948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407965.1:c.3588C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407966.1:c.3204C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407967.1:c.3204C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407968.1:c.1488C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407969.1:c.1488C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007294.4:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007297.4:c.3951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007300.4:c.4092C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Xylodon flaviporus voucher SFC20180710-24 internal transcribed spacer 1, partial...
Xylodon flaviporus voucher SFC20180710-24 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|1674913975|gb|MK992840.1|

Nucleotide
PREDICTED: Rattus norvegicus tetraspanin 9 (Tspan9), transcript variant X6, mRNA
PREDICTED: Rattus norvegicus tetraspanin 9 (Tspan9), transcript variant X6, mRNA
gi|2678938091|ref|XM_017592656.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000578048	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2017-06-29))	Likely benign (Jun 29, 2017)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000578048

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)

reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))

Likely benign
(Jun 29, 2017)

germline

curation

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000578048.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

ClinVar

Relating variation to medicine