NM_007294.4(BRCA1):c.4344C>T (p.Ser1448=) AND Hereditary cancer-predisposing syndrome
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000574391.16
Allele description [Variation Report for NM_007294.4(BRCA1):c.4344C>T (p.Ser1448=)]
NM_007294.4(BRCA1):c.4344C>T (p.Ser1448=)
- 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.4344C>T (p.Ser1448=)
- HGVS:
- NC_000017.11:g.43082417G>A
- NG_005905.2:g.135567C>T
- NM_001407571.1:c.4131C>T
- NM_001407581.1:c.4344C>T
- NM_001407582.1:c.4344C>T
- NM_001407583.1:c.4344C>T
- NM_001407585.1:c.4344C>T
- NM_001407587.1:c.4341C>T
- NM_001407590.1:c.4341C>T
- NM_001407591.1:c.4341C>T
- NM_001407593.1:c.4344C>T
- NM_001407594.1:c.4344C>T
- NM_001407596.1:c.4344C>T
- NM_001407597.1:c.4344C>T
- NM_001407598.1:c.4344C>T
- NM_001407602.1:c.4344C>T
- NM_001407603.1:c.4344C>T
- NM_001407605.1:c.4344C>T
- NM_001407610.1:c.4341C>T
- NM_001407611.1:c.4341C>T
- NM_001407612.1:c.4341C>T
- NM_001407613.1:c.4341C>T
- NM_001407614.1:c.4341C>T
- NM_001407615.1:c.4341C>T
- NM_001407616.1:c.4344C>T
- NM_001407617.1:c.4344C>T
- NM_001407618.1:c.4344C>T
- NM_001407619.1:c.4344C>T
- NM_001407620.1:c.4344C>T
- NM_001407621.1:c.4344C>T
- NM_001407622.1:c.4344C>T
- NM_001407623.1:c.4344C>T
- NM_001407624.1:c.4341C>T
- NM_001407625.1:c.4341C>T
- NM_001407626.1:c.4341C>T
- NM_001407627.1:c.4338C>T
- NM_001407628.1:c.4338C>T
- NM_001407629.1:c.4338C>T
- NM_001407630.1:c.4338C>T
- NM_001407631.1:c.4338C>T
- NM_001407632.1:c.4338C>T
- NM_001407633.1:c.4341C>T
- NM_001407634.1:c.4341C>T
- NM_001407635.1:c.4341C>T
- NM_001407636.1:c.4341C>T
- NM_001407637.1:c.4341C>T
- NM_001407638.1:c.4341C>T
- NM_001407639.1:c.4341C>T
- NM_001407640.1:c.4341C>T
- NM_001407641.1:c.4341C>T
- NM_001407642.1:c.4341C>T
- NM_001407644.1:c.4338C>T
- NM_001407645.1:c.4338C>T
- NM_001407646.1:c.4332C>T
- NM_001407647.1:c.4332C>T
- NM_001407648.1:c.4221C>T
- NM_001407649.1:c.4218C>T
- NM_001407652.1:c.4344C>T
- NM_001407653.1:c.4266C>T
- NM_001407654.1:c.4266C>T
- NM_001407655.1:c.4266C>T
- NM_001407656.1:c.4263C>T
- NM_001407657.1:c.4266C>T
- NM_001407658.1:c.4266C>T
- NM_001407659.1:c.4260C>T
- NM_001407660.1:c.4260C>T
- NM_001407661.1:c.4263C>T
- NM_001407662.1:c.4263C>T
- NM_001407663.1:c.4263C>T
- NM_001407664.1:c.4221C>T
- NM_001407665.1:c.4221C>T
- NM_001407666.1:c.4221C>T
- NM_001407667.1:c.4221C>T
- NM_001407668.1:c.4221C>T
- NM_001407669.1:c.4221C>T
- NM_001407670.1:c.4218C>T
- NM_001407671.1:c.4218C>T
- NM_001407672.1:c.4218C>T
- NM_001407673.1:c.4218C>T
- NM_001407674.1:c.4218C>T
- NM_001407675.1:c.4218C>T
- NM_001407676.1:c.4218C>T
- NM_001407677.1:c.4221C>T
- NM_001407678.1:c.4221C>T
- NM_001407679.1:c.4221C>T
- NM_001407680.1:c.4221C>T
- NM_001407681.1:c.4218C>T
- NM_001407682.1:c.4218C>T
- NM_001407683.1:c.4218C>T
- NM_001407684.1:c.4344C>T
- NM_001407685.1:c.4215C>T
- NM_001407686.1:c.4215C>T
- NM_001407687.1:c.4215C>T
- NM_001407688.1:c.4218C>T
- NM_001407689.1:c.4218C>T
- NM_001407690.1:c.4215C>T
- NM_001407691.1:c.4215C>T
- NM_001407692.1:c.4203C>T
- NM_001407694.1:c.4203C>T
- NM_001407695.1:c.4203C>T
- NM_001407696.1:c.4203C>T
- NM_001407697.1:c.4203C>T
- NM_001407698.1:c.4203C>T
- NM_001407724.1:c.4203C>T
- NM_001407725.1:c.4203C>T
- NM_001407726.1:c.4203C>T
- NM_001407727.1:c.4203C>T
- NM_001407728.1:c.4203C>T
- NM_001407729.1:c.4203C>T
- NM_001407730.1:c.4203C>T
- NM_001407731.1:c.4203C>T
- NM_001407732.1:c.4203C>T
- NM_001407733.1:c.4203C>T
- NM_001407734.1:c.4203C>T
- NM_001407735.1:c.4203C>T
- NM_001407736.1:c.4203C>T
- NM_001407737.1:c.4203C>T
- NM_001407738.1:c.4203C>T
- NM_001407739.1:c.4203C>T
- NM_001407740.1:c.4200C>T
- NM_001407741.1:c.4200C>T
- NM_001407742.1:c.4200C>T
- NM_001407743.1:c.4200C>T
- NM_001407744.1:c.4200C>T
- NM_001407745.1:c.4200C>T
- NM_001407746.1:c.4200C>T
- NM_001407747.1:c.4200C>T
- NM_001407748.1:c.4200C>T
- NM_001407749.1:c.4200C>T
- NM_001407750.1:c.4200C>T
- NM_001407751.1:c.4200C>T
- NM_001407752.1:c.4200C>T
- NM_001407838.1:c.4200C>T
- NM_001407839.1:c.4200C>T
- NM_001407841.1:c.4200C>T
- NM_001407842.1:c.4200C>T
- NM_001407843.1:c.4200C>T
- NM_001407844.1:c.4200C>T
- NM_001407845.1:c.4200C>T
- NM_001407846.1:c.4200C>T
- NM_001407847.1:c.4197C>T
- NM_001407848.1:c.4197C>T
- NM_001407849.1:c.4197C>T
- NM_001407850.1:c.4200C>T
- NM_001407851.1:c.4200C>T
- NM_001407852.1:c.4200C>T
- NM_001407853.1:c.4131C>T
- NM_001407854.1:c.4344C>T
- NM_001407858.1:c.4344C>T
- NM_001407859.1:c.4344C>T
- NM_001407860.1:c.4341C>T
- NM_001407861.1:c.4341C>T
- NM_001407862.1:c.4143C>T
- NM_001407863.1:c.4221C>T
- NM_001407874.1:c.4140C>T
- NM_001407875.1:c.4140C>T
- NM_001407879.1:c.4134C>T
- NM_001407881.1:c.4134C>T
- NM_001407882.1:c.4134C>T
- NM_001407884.1:c.4134C>T
- NM_001407885.1:c.4134C>T
- NM_001407886.1:c.4134C>T
- NM_001407887.1:c.4134C>T
- NM_001407889.1:c.4134C>T
- NM_001407894.1:c.4131C>T
- NM_001407895.1:c.4131C>T
- NM_001407896.1:c.4131C>T
- NM_001407897.1:c.4131C>T
- NM_001407898.1:c.4131C>T
- NM_001407899.1:c.4131C>T
- NM_001407900.1:c.4134C>T
- NM_001407902.1:c.4134C>T
- NM_001407904.1:c.4134C>T
- NM_001407906.1:c.4134C>T
- NM_001407907.1:c.4131C>T
- NM_001407908.1:c.4131C>T
- NM_001407909.1:c.4131C>T
- NM_001407910.1:c.4131C>T
- NM_001407915.1:c.4128C>T
- NM_001407916.1:c.4131C>T
- NM_001407917.1:c.4131C>T
- NM_001407918.1:c.4131C>T
- NM_001407919.1:c.4221C>T
- NM_001407920.1:c.4080C>T
- NM_001407921.1:c.4080C>T
- NM_001407922.1:c.4080C>T
- NM_001407923.1:c.4080C>T
- NM_001407924.1:c.4080C>T
- NM_001407925.1:c.4080C>T
- NM_001407926.1:c.4080C>T
- NM_001407927.1:c.4080C>T
- NM_001407928.1:c.4080C>T
- NM_001407929.1:c.4080C>T
- NM_001407930.1:c.4077C>T
- NM_001407931.1:c.4077C>T
- NM_001407932.1:c.4077C>T
- NM_001407933.1:c.4077C>T
- NM_001407934.1:c.4074C>T
- NM_001407935.1:c.4077C>T
- NM_001407936.1:c.4077C>T
- NM_001407937.1:c.4221C>T
- NM_001407938.1:c.4221C>T
- NM_001407939.1:c.4221C>T
- NM_001407940.1:c.4218C>T
- NM_001407941.1:c.4218C>T
- NM_001407942.1:c.4203C>T
- NM_001407943.1:c.4200C>T
- NM_001407944.1:c.4203C>T
- NM_001407945.1:c.4203C>T
- NM_001407946.1:c.4011C>T
- NM_001407947.1:c.4011C>T
- NM_001407948.1:c.4011C>T
- NM_001407949.1:c.4011C>T
- NM_001407950.1:c.4011C>T
- NM_001407951.1:c.4011C>T
- NM_001407952.1:c.4008C>T
- NM_001407953.1:c.4008C>T
- NM_001407954.1:c.4008C>T
- NM_001407955.1:c.4008C>T
- NM_001407956.1:c.4005C>T
- NM_001407957.1:c.4008C>T
- NM_001407958.1:c.4008C>T
- NM_001407959.1:c.3963C>T
- NM_001407960.1:c.3963C>T
- NM_001407962.1:c.3960C>T
- NM_001407963.1:c.3960C>T
- NM_001407964.1:c.4200C>T
- NM_001407965.1:c.3837C>T
- NM_001407966.1:c.3456C>T
- NM_001407967.1:c.3456C>T
- NM_001407968.1:c.1740C>T
- NM_001407969.1:c.1737C>T
- NM_001407970.1:c.1035C>T
- NM_001407971.1:c.1035C>T
- NM_001407972.1:c.1032C>T
- NM_001407973.1:c.1035C>T
- NM_001407974.1:c.1035C>T
- NM_001407975.1:c.1035C>T
- NM_001407976.1:c.1035C>T
- NM_001407977.1:c.1035C>T
- NM_001407978.1:c.1035C>T
- NM_001407979.1:c.1032C>T
- NM_001407980.1:c.1032C>T
- NM_001407981.1:c.1032C>T
- NM_001407982.1:c.1032C>T
- NM_001407983.1:c.1032C>T
- NM_001407984.1:c.1032C>T
- NM_001407985.1:c.1032C>T
- NM_001407986.1:c.1032C>T
- NM_001407990.1:c.1032C>T
- NM_001407991.1:c.1032C>T
- NM_001407992.1:c.1032C>T
- NM_001407993.1:c.1035C>T
- NM_001408392.1:c.1032C>T
- NM_001408396.1:c.1032C>T
- NM_001408397.1:c.1032C>T
- NM_001408398.1:c.1032C>T
- NM_001408399.1:c.1032C>T
- NM_001408400.1:c.1029C>T
- NM_001408401.1:c.1029C>T
- NM_001408402.1:c.1029C>T
- NM_001408403.1:c.1032C>T
- NM_001408404.1:c.1032C>T
- NM_001408406.1:c.1026C>T
- NM_001408407.1:c.1029C>T
- NM_001408408.1:c.1026C>T
- NM_001408409.1:c.957C>T
- NM_001408410.1:c.894C>T
- NM_001408411.1:c.957C>T
- NM_001408412.1:c.957C>T
- NM_001408413.1:c.954C>T
- NM_001408414.1:c.957C>T
- NM_001408415.1:c.957C>T
- NM_001408416.1:c.954C>T
- NM_001408418.1:c.918C>T
- NM_001408419.1:c.918C>T
- NM_001408420.1:c.918C>T
- NM_001408421.1:c.915C>T
- NM_001408422.1:c.918C>T
- NM_001408423.1:c.918C>T
- NM_001408424.1:c.915C>T
- NM_001408425.1:c.912C>T
- NM_001408426.1:c.912C>T
- NM_001408427.1:c.912C>T
- NM_001408428.1:c.912C>T
- NM_001408429.1:c.912C>T
- NM_001408430.1:c.912C>T
- NM_001408431.1:c.915C>T
- NM_001408432.1:c.909C>T
- NM_001408433.1:c.909C>T
- NM_001408434.1:c.909C>T
- NM_001408435.1:c.909C>T
- NM_001408436.1:c.912C>T
- NM_001408437.1:c.912C>T
- NM_001408438.1:c.912C>T
- NM_001408439.1:c.912C>T
- NM_001408440.1:c.912C>T
- NM_001408441.1:c.909C>T
- NM_001408442.1:c.909C>T
- NM_001408443.1:c.909C>T
- NM_001408444.1:c.909C>T
- NM_001408445.1:c.909C>T
- NM_001408446.1:c.909C>T
- NM_001408447.1:c.909C>T
- NM_001408448.1:c.909C>T
- NM_001408450.1:c.909C>T
- NM_001408451.1:c.900C>T
- NM_001408452.1:c.894C>T
- NM_001408453.1:c.894C>T
- NM_001408454.1:c.894C>T
- NM_001408455.1:c.894C>T
- NM_001408456.1:c.894C>T
- NM_001408457.1:c.894C>T
- NM_001408458.1:c.894C>T
- NM_001408459.1:c.894C>T
- NM_001408460.1:c.894C>T
- NM_001408461.1:c.894C>T
- NM_001408462.1:c.891C>T
- NM_001408463.1:c.891C>T
- NM_001408464.1:c.891C>T
- NM_001408465.1:c.891C>T
- NM_001408466.1:c.891C>T
- NM_001408467.1:c.891C>T
- NM_001408468.1:c.891C>T
- NM_001408469.1:c.891C>T
- NM_001408470.1:c.888C>T
- NM_001408472.1:c.1032C>T
- NM_001408473.1:c.1032C>T
- NM_001408474.1:c.834C>T
- NM_001408475.1:c.831C>T
- NM_001408476.1:c.834C>T
- NM_001408478.1:c.825C>T
- NM_001408479.1:c.825C>T
- NM_001408480.1:c.825C>T
- NM_001408481.1:c.825C>T
- NM_001408482.1:c.825C>T
- NM_001408483.1:c.825C>T
- NM_001408484.1:c.825C>T
- NM_001408485.1:c.825C>T
- NM_001408489.1:c.822C>T
- NM_001408490.1:c.822C>T
- NM_001408491.1:c.822C>T
- NM_001408492.1:c.822C>T
- NM_001408493.1:c.822C>T
- NM_001408494.1:c.795C>T
- NM_001408495.1:c.792C>T
- NM_001408496.1:c.771C>T
- NM_001408497.1:c.771C>T
- NM_001408498.1:c.771C>T
- NM_001408499.1:c.771C>T
- NM_001408500.1:c.771C>T
- NM_001408501.1:c.771C>T
- NM_001408502.1:c.702C>T
- NM_001408503.1:c.768C>T
- NM_001408504.1:c.768C>T
- NM_001408505.1:c.768C>T
- NM_001408506.1:c.708C>T
- NM_001408507.1:c.705C>T
- NM_001408508.1:c.696C>T
- NM_001408509.1:c.696C>T
- NM_001408510.1:c.654C>T
- NM_001408511.1:c.651C>T
- NM_001408512.1:c.531C>T
- NM_001408513.1:c.822C>T
- NM_001408514.1:c.825C>T
- NM_007294.4:c.4344C>TMANE SELECT
- NM_007297.4:c.4203C>T
- NM_007298.4:c.1035C>T
- NM_007299.4:c.1035C>T
- NM_007300.4:c.4344C>T
- NM_007304.2:c.1035C>T
- NP_001394500.1:p.Ser1377=
- NP_001394510.1:p.Ser1448=
- NP_001394511.1:p.Ser1448=
- NP_001394512.1:p.Ser1448=
- NP_001394514.1:p.Ser1448=
- NP_001394516.1:p.Ser1447=
- NP_001394519.1:p.Ser1447=
- NP_001394520.1:p.Ser1447=
- NP_001394522.1:p.Ser1448=
- NP_001394523.1:p.Ser1448=
- NP_001394525.1:p.Ser1448=
- NP_001394526.1:p.Ser1448=
- NP_001394527.1:p.Ser1448=
- NP_001394531.1:p.Ser1448=
- NP_001394532.1:p.Ser1448=
- NP_001394534.1:p.Ser1448=
- NP_001394539.1:p.Ser1447=
- NP_001394540.1:p.Ser1447=
- NP_001394541.1:p.Ser1447=
- NP_001394542.1:p.Ser1447=
- NP_001394543.1:p.Ser1447=
- NP_001394544.1:p.Ser1447=
- NP_001394545.1:p.Ser1448=
- NP_001394546.1:p.Ser1448=
- NP_001394547.1:p.Ser1448=
- NP_001394548.1:p.Ser1448=
- NP_001394549.1:p.Ser1448=
- NP_001394550.1:p.Ser1448=
- NP_001394551.1:p.Ser1448=
- NP_001394552.1:p.Ser1448=
- NP_001394553.1:p.Ser1447=
- NP_001394554.1:p.Ser1447=
- NP_001394555.1:p.Ser1447=
- NP_001394556.1:p.Ser1446=
- NP_001394557.1:p.Ser1446=
- NP_001394558.1:p.Ser1446=
- NP_001394559.1:p.Ser1446=
- NP_001394560.1:p.Ser1446=
- NP_001394561.1:p.Ser1446=
- NP_001394562.1:p.Ser1447=
- NP_001394563.1:p.Ser1447=
- NP_001394564.1:p.Ser1447=
- NP_001394565.1:p.Ser1447=
- NP_001394566.1:p.Ser1447=
- NP_001394567.1:p.Ser1447=
- NP_001394568.1:p.Ser1447=
- NP_001394569.1:p.Ser1447=
- NP_001394570.1:p.Ser1447=
- NP_001394571.1:p.Ser1447=
- NP_001394573.1:p.Ser1446=
- NP_001394574.1:p.Ser1446=
- NP_001394575.1:p.Ser1444=
- NP_001394576.1:p.Ser1444=
- NP_001394577.1:p.Ser1407=
- NP_001394578.1:p.Ser1406=
- NP_001394581.1:p.Ser1448=
- NP_001394582.1:p.Ser1422=
- NP_001394583.1:p.Ser1422=
- NP_001394584.1:p.Ser1422=
- NP_001394585.1:p.Ser1421=
- NP_001394586.1:p.Ser1422=
- NP_001394587.1:p.Ser1422=
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- NP_001394656.1:p.Ser1401=
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- NP_001394663.1:p.Ser1401=
- NP_001394664.1:p.Ser1401=
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- NP_001394666.1:p.Ser1401=
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- NP_001394668.1:p.Ser1401=
- NP_001394669.1:p.Ser1400=
- NP_001394670.1:p.Ser1400=
- NP_001394671.1:p.Ser1400=
- NP_001394672.1:p.Ser1400=
- NP_001394673.1:p.Ser1400=
- NP_001394674.1:p.Ser1400=
- NP_001394675.1:p.Ser1400=
- NP_001394676.1:p.Ser1400=
- NP_001394677.1:p.Ser1400=
- NP_001394678.1:p.Ser1400=
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- NP_001394767.1:p.Ser1400=
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- NP_001394771.1:p.Ser1400=
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- NP_001394814.1:p.Ser1378=
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- NP_001394849.1:p.Ser1360=
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- NP_001394860.1:p.Ser1359=
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- NP_001394863.1:p.Ser1358=
- NP_001394864.1:p.Ser1359=
- NP_001394865.1:p.Ser1359=
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- NP_001394867.1:p.Ser1407=
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- NP_001394871.1:p.Ser1401=
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- NP_001394875.1:p.Ser1337=
- NP_001394876.1:p.Ser1337=
- NP_001394877.1:p.Ser1337=
- NP_001394878.1:p.Ser1337=
- NP_001394879.1:p.Ser1337=
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- NP_001394881.1:p.Ser1336=
- NP_001394882.1:p.Ser1336=
- NP_001394883.1:p.Ser1336=
- NP_001394884.1:p.Ser1336=
- NP_001394885.1:p.Ser1335=
- NP_001394886.1:p.Ser1336=
- NP_001394887.1:p.Ser1336=
- NP_001394888.1:p.Ser1321=
- NP_001394889.1:p.Ser1321=
- NP_001394891.1:p.Ser1320=
- NP_001394892.1:p.Ser1320=
- NP_001394893.1:p.Ser1400=
- NP_001394894.1:p.Ser1279=
- NP_001394895.1:p.Ser1152=
- NP_001394896.1:p.Ser1152=
- NP_001394897.1:p.Ser580=
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- NP_001394902.1:p.Ser345=
- NP_001394903.1:p.Ser345=
- NP_001394904.1:p.Ser345=
- NP_001394905.1:p.Ser345=
- NP_001394906.1:p.Ser345=
- NP_001394907.1:p.Ser345=
- NP_001394908.1:p.Ser344=
- NP_001394909.1:p.Ser344=
- NP_001394910.1:p.Ser344=
- NP_001394911.1:p.Ser344=
- NP_001394912.1:p.Ser344=
- NP_001394913.1:p.Ser344=
- NP_001394914.1:p.Ser344=
- NP_001394915.1:p.Ser344=
- NP_001394919.1:p.Ser344=
- NP_001394920.1:p.Ser344=
- NP_001394921.1:p.Ser344=
- NP_001394922.1:p.Ser345=
- NP_001395321.1:p.Ser344=
- NP_001395325.1:p.Ser344=
- NP_001395326.1:p.Ser344=
- NP_001395327.1:p.Ser344=
- NP_001395328.1:p.Ser344=
- NP_001395329.1:p.Ser343=
- NP_001395330.1:p.Ser343=
- NP_001395331.1:p.Ser343=
- NP_001395332.1:p.Ser344=
- NP_001395333.1:p.Ser344=
- NP_001395335.1:p.Ser342=
- NP_001395336.1:p.Ser343=
- NP_001395337.1:p.Ser342=
- NP_001395338.1:p.Ser319=
- NP_001395339.1:p.Ser298=
- NP_001395340.1:p.Ser319=
- NP_001395341.1:p.Ser319=
- NP_001395342.1:p.Ser318=
- NP_001395343.1:p.Ser319=
- NP_001395344.1:p.Ser319=
- NP_001395345.1:p.Ser318=
- NP_001395347.1:p.Ser306=
- NP_001395348.1:p.Ser306=
- NP_001395349.1:p.Ser306=
- NP_001395350.1:p.Ser305=
- NP_001395351.1:p.Ser306=
- NP_001395352.1:p.Ser306=
- NP_001395353.1:p.Ser305=
- NP_001395354.1:p.Ser304=
- NP_001395355.1:p.Ser304=
- NP_001395356.1:p.Ser304=
- NP_001395357.1:p.Ser304=
- NP_001395358.1:p.Ser304=
- NP_001395359.1:p.Ser304=
- NP_001395360.1:p.Ser305=
- NP_001395361.1:p.Ser303=
- NP_001395362.1:p.Ser303=
- NP_001395363.1:p.Ser303=
- NP_001395364.1:p.Ser303=
- NP_001395365.1:p.Ser304=
- NP_001395366.1:p.Ser304=
- NP_001395367.1:p.Ser304=
- NP_001395368.1:p.Ser304=
- NP_001395369.1:p.Ser304=
- NP_001395370.1:p.Ser303=
- NP_001395371.1:p.Ser303=
- NP_001395372.1:p.Ser303=
- NP_001395373.1:p.Ser303=
- NP_001395374.1:p.Ser303=
- NP_001395375.1:p.Ser303=
- NP_001395376.1:p.Ser303=
- NP_001395377.1:p.Ser303=
- NP_001395379.1:p.Ser303=
- NP_001395380.1:p.Ser300=
- NP_001395381.1:p.Ser298=
- NP_001395382.1:p.Ser298=
- NP_001395383.1:p.Ser298=
- NP_001395384.1:p.Ser298=
- NP_001395385.1:p.Ser298=
- NP_001395386.1:p.Ser298=
- NP_001395387.1:p.Ser298=
- NP_001395388.1:p.Ser298=
- NP_001395389.1:p.Ser298=
- NP_001395390.1:p.Ser298=
- NP_001395391.1:p.Ser297=
- NP_001395392.1:p.Ser297=
- NP_001395393.1:p.Ser297=
- NP_001395394.1:p.Ser297=
- NP_001395395.1:p.Ser297=
- NP_001395396.1:p.Ser297=
- NP_001395397.1:p.Ser297=
- NP_001395398.1:p.Ser297=
- NP_001395399.1:p.Ser296=
- NP_001395401.1:p.Ser344=
- NP_001395402.1:p.Ser344=
- NP_001395403.1:p.Ser278=
- NP_001395404.1:p.Ser277=
- NP_001395405.1:p.Ser278=
- NP_001395407.1:p.Ser275=
- NP_001395408.1:p.Ser275=
- NP_001395409.1:p.Ser275=
- NP_001395410.1:p.Ser275=
- NP_001395411.1:p.Ser275=
- NP_001395412.1:p.Ser275=
- NP_001395413.1:p.Ser275=
- NP_001395414.1:p.Ser275=
- NP_001395418.1:p.Ser274=
- NP_001395419.1:p.Ser274=
- NP_001395420.1:p.Ser274=
- NP_001395421.1:p.Ser274=
- NP_001395422.1:p.Ser274=
- NP_001395423.1:p.Ser265=
- NP_001395424.1:p.Ser264=
- NP_001395425.1:p.Ser257=
- NP_001395426.1:p.Ser257=
- NP_001395427.1:p.Ser257=
- NP_001395428.1:p.Ser257=
- NP_001395429.1:p.Ser257=
- NP_001395430.1:p.Ser257=
- NP_001395431.1:p.Ser234=
- NP_001395432.1:p.Ser256=
- NP_001395433.1:p.Ser256=
- NP_001395434.1:p.Ser256=
- NP_001395435.1:p.Ser236=
- NP_001395436.1:p.Ser235=
- NP_001395437.1:p.Ser232=
- NP_001395438.1:p.Ser232=
- NP_001395439.1:p.Ser218=
- NP_001395440.1:p.Ser217=
- NP_001395441.1:p.Ser177=
- NP_001395442.1:p.Ser274=
- NP_001395443.1:p.Ser275=
- NP_009225.1:p.Ser1448=
- NP_009225.1:p.Ser1448=
- NP_009228.2:p.Ser1401=
- NP_009229.2:p.Ser345=
- NP_009230.2:p.Ser345=
- NP_009231.2:p.Ser1448=
- NP_009235.2:p.Ser345=
- LRG_292t1:c.4344C>T
- LRG_292:g.135567C>T
- LRG_292p1:p.Ser1448=
- NC_000017.10:g.41234434G>A
- NM_007294.3:c.4344C>T
- NR_027676.2:n.4521C>T
This HGVS expression did not pass validation- Links:
- dbSNP: rs1250691798
- NCBI 1000 Genomes Browser:
- rs1250691798
- Molecular consequence:
- NM_001407571.1:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407581.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407582.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407583.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407585.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407587.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407590.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407591.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407593.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407594.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407596.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407597.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407598.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407602.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407603.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407605.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407610.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407611.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407612.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407613.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407614.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407615.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407616.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407617.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407618.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407619.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407620.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407621.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407622.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407623.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407624.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407625.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407626.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407627.1:c.4338C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407628.1:c.4338C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407629.1:c.4338C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407630.1:c.4338C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407631.1:c.4338C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407632.1:c.4338C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407633.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407634.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407635.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407636.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407637.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407638.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407639.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407640.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407641.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407642.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407644.1:c.4338C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407645.1:c.4338C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407646.1:c.4332C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407647.1:c.4332C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407648.1:c.4221C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407649.1:c.4218C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407652.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407653.1:c.4266C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407654.1:c.4266C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407655.1:c.4266C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407656.1:c.4263C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407657.1:c.4266C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407658.1:c.4266C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407659.1:c.4260C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407660.1:c.4260C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407661.1:c.4263C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407662.1:c.4263C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407663.1:c.4263C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407664.1:c.4221C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407665.1:c.4221C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407666.1:c.4221C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407667.1:c.4221C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407668.1:c.4221C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407669.1:c.4221C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407670.1:c.4218C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407671.1:c.4218C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407672.1:c.4218C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407673.1:c.4218C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407674.1:c.4218C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407675.1:c.4218C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407676.1:c.4218C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407677.1:c.4221C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407678.1:c.4221C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407679.1:c.4221C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407680.1:c.4221C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407681.1:c.4218C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407682.1:c.4218C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407683.1:c.4218C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407684.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407685.1:c.4215C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407686.1:c.4215C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407687.1:c.4215C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407688.1:c.4218C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407689.1:c.4218C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407690.1:c.4215C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407691.1:c.4215C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407692.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407694.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407695.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407696.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407697.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407698.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407724.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407725.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407726.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407727.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407728.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407729.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407730.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407731.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407732.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407733.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407734.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407735.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407736.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407737.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407738.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407739.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407740.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407741.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407742.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407743.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407744.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407745.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407746.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407747.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407748.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407749.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407750.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407751.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407752.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407838.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407839.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407841.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407842.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407843.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407844.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407845.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407846.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407847.1:c.4197C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407848.1:c.4197C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407849.1:c.4197C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407850.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407851.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407852.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407853.1:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407854.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407858.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407859.1:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407860.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407861.1:c.4341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407862.1:c.4143C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407863.1:c.4221C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407874.1:c.4140C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407875.1:c.4140C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407879.1:c.4134C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407881.1:c.4134C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407882.1:c.4134C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407884.1:c.4134C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407885.1:c.4134C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407886.1:c.4134C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407887.1:c.4134C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407889.1:c.4134C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407894.1:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407895.1:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407896.1:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407897.1:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407898.1:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407899.1:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407900.1:c.4134C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407902.1:c.4134C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407904.1:c.4134C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407906.1:c.4134C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407907.1:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407908.1:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407909.1:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407910.1:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407915.1:c.4128C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407916.1:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407917.1:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407918.1:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407919.1:c.4221C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407920.1:c.4080C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407921.1:c.4080C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407922.1:c.4080C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407923.1:c.4080C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407924.1:c.4080C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407925.1:c.4080C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407926.1:c.4080C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407927.1:c.4080C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407928.1:c.4080C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407929.1:c.4080C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407930.1:c.4077C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407931.1:c.4077C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407932.1:c.4077C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407933.1:c.4077C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407934.1:c.4074C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407935.1:c.4077C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407936.1:c.4077C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407937.1:c.4221C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407938.1:c.4221C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407939.1:c.4221C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407940.1:c.4218C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407941.1:c.4218C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407942.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407943.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407944.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407945.1:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407946.1:c.4011C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407947.1:c.4011C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407948.1:c.4011C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407949.1:c.4011C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407950.1:c.4011C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407951.1:c.4011C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407952.1:c.4008C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407953.1:c.4008C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407954.1:c.4008C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407955.1:c.4008C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407956.1:c.4005C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407957.1:c.4008C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407958.1:c.4008C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407959.1:c.3963C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407960.1:c.3963C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407962.1:c.3960C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407963.1:c.3960C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407964.1:c.4200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407965.1:c.3837C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407966.1:c.3456C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407967.1:c.3456C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407968.1:c.1740C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407969.1:c.1737C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407970.1:c.1035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407971.1:c.1035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407972.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407973.1:c.1035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407974.1:c.1035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407975.1:c.1035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407976.1:c.1035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407977.1:c.1035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407978.1:c.1035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407979.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407980.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407981.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407982.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407983.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407984.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407985.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407986.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407990.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407991.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407992.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407993.1:c.1035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408392.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408396.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408397.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408398.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408399.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408400.1:c.1029C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408401.1:c.1029C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408402.1:c.1029C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408403.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408404.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408406.1:c.1026C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408407.1:c.1029C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408408.1:c.1026C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408409.1:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408410.1:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408411.1:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408412.1:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408413.1:c.954C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408414.1:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408415.1:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408416.1:c.954C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408418.1:c.918C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408419.1:c.918C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408420.1:c.918C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408421.1:c.915C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408422.1:c.918C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408423.1:c.918C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408424.1:c.915C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408425.1:c.912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408426.1:c.912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408427.1:c.912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408428.1:c.912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408429.1:c.912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408430.1:c.912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408431.1:c.915C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408432.1:c.909C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408433.1:c.909C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408434.1:c.909C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408435.1:c.909C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408436.1:c.912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408437.1:c.912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408438.1:c.912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408439.1:c.912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408440.1:c.912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408441.1:c.909C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408442.1:c.909C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408443.1:c.909C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408444.1:c.909C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408445.1:c.909C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408446.1:c.909C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408447.1:c.909C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408448.1:c.909C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408450.1:c.909C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408451.1:c.900C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408452.1:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408453.1:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408454.1:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408455.1:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408456.1:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408457.1:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408458.1:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408459.1:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408460.1:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408461.1:c.894C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408462.1:c.891C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408463.1:c.891C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408464.1:c.891C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408465.1:c.891C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408466.1:c.891C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408467.1:c.891C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408468.1:c.891C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408469.1:c.891C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408470.1:c.888C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408472.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408473.1:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408474.1:c.834C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408475.1:c.831C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408476.1:c.834C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408478.1:c.825C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408479.1:c.825C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408480.1:c.825C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408481.1:c.825C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408482.1:c.825C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408483.1:c.825C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408484.1:c.825C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408485.1:c.825C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408489.1:c.822C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408490.1:c.822C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408491.1:c.822C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408492.1:c.822C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408493.1:c.822C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408494.1:c.795C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408495.1:c.792C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408496.1:c.771C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408497.1:c.771C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408498.1:c.771C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408499.1:c.771C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408500.1:c.771C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408501.1:c.771C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408502.1:c.702C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408503.1:c.768C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408504.1:c.768C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408505.1:c.768C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408506.1:c.708C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408507.1:c.705C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408508.1:c.696C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408509.1:c.696C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408510.1:c.654C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408511.1:c.651C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408512.1:c.531C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408513.1:c.822C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408514.1:c.825C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007294.4:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007297.4:c.4203C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007298.4:c.1035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007299.4:c.1035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007300.4:c.4344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007304.2:c.1035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
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
-
PREDICTED: Vulpes vulpes contactin 2 (CNTN2), transcript variant X2, mRNA
PREDICTED: Vulpes vulpes contactin 2 (CNTN2), transcript variant X2, mRNAgi|1435549742|ref|XM_025991397.1|Nucleotide
-
Homo sapiens cDNA clone IMAGE:4245816, containing frame-shift errors
Homo sapiens cDNA clone IMAGE:4245816, containing frame-shift errorsgi|17389950|gb|BC017983.1|Nucleotide
-
105593[uid] AND (alive[prop]) (0)
Gene
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000661139 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Likely benign (Jul 10, 2017) | germline | clinical testing | |
SCV000688486 | Color Diagnostics, LLC DBA Color Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely benign (Dec 12, 2016) | germline | clinical testing | |
SCV002538288 | Sema4, Sema4 | criteria provided, single submitter (Sema4 Curation Guidelines) | Uncertain significance (Aug 16, 2021) | germline | curation |
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 | clinical testing, curation |
Citations
PubMed
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.
- PMID:
- 25741868
- PMCID:
- PMC4544753
Sandoval RL, Leite ACR, Barbalho DM, Assad DX, Barroso R, Polidorio N, Dos Anjos CH, de Miranda AD, Ferreira ACSM, Fernandes GDS, Achatz MI.
PLoS One. 2021;16(2):e0247363. doi: 10.1371/journal.pone.0247363.
- PMID:
- 33606809
- PMCID:
- PMC7895369
Details of each submission
From Ambry Genetics, SCV000661139.5
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
# | 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 |
From Color Diagnostics, LLC DBA Color Health, SCV000688486.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | 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 |
From Sema4, Sema4, SCV002538288.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | PubMed (1) |
# | 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