NM_007294.4(BRCA1):c.4060AAT[1] (p.Asn1355del) AND not provided
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Nov 13, 2019
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- 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:
- RCV000758822.6
Allele description [Variation Report for NM_007294.4(BRCA1):c.4060AAT[1] (p.Asn1355del)]
NM_007294.4(BRCA1):c.4060AAT[1] (p.Asn1355del)
- Genes:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene] - Variant type:
- Microsatellite
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.4060AAT[1] (p.Asn1355del)
- HGVS:
- NC_000017.11:g.43091466ATT[1]
- NG_005905.2:g.126513AAT[1]
- NG_087068.1:g.448ATT[1]
- NM_001407571.1:c.3847AAT[1]
- NM_001407581.1:c.4060AAT[1]
- NM_001407582.1:c.4060AAT[1]
- NM_001407583.1:c.4060AAT[1]
- NM_001407585.1:c.4060AAT[1]
- NM_001407587.1:c.4057AAT[1]
- NM_001407590.1:c.4057AAT[1]
- NM_001407591.1:c.4057AAT[1]
- NM_001407593.1:c.4060AAT[1]
- NM_001407594.1:c.4060AAT[1]
- NM_001407596.1:c.4060AAT[1]
- NM_001407597.1:c.4060AAT[1]
- NM_001407598.1:c.4060AAT[1]
- NM_001407602.1:c.4060AAT[1]
- NM_001407603.1:c.4060AAT[1]
- NM_001407605.1:c.4060AAT[1]
- NM_001407610.1:c.4057AAT[1]
- NM_001407611.1:c.4057AAT[1]
- NM_001407612.1:c.4057AAT[1]
- NM_001407613.1:c.4057AAT[1]
- NM_001407614.1:c.4057AAT[1]
- NM_001407615.1:c.4057AAT[1]
- NM_001407616.1:c.4060AAT[1]
- NM_001407617.1:c.4060AAT[1]
- NM_001407618.1:c.4060AAT[1]
- NM_001407619.1:c.4060AAT[1]
- NM_001407620.1:c.4060AAT[1]
- NM_001407621.1:c.4060AAT[1]
- NM_001407622.1:c.4060AAT[1]
- NM_001407623.1:c.4060AAT[1]
- NM_001407624.1:c.4060AAT[1]
- NM_001407625.1:c.4060AAT[1]
- NM_001407626.1:c.4060AAT[1]
- NM_001407627.1:c.4057AAT[1]
- NM_001407628.1:c.4057AAT[1]
- NM_001407629.1:c.4057AAT[1]
- NM_001407630.1:c.4057AAT[1]
- NM_001407631.1:c.4057AAT[1]
- NM_001407632.1:c.4057AAT[1]
- NM_001407633.1:c.4057AAT[1]
- NM_001407634.1:c.4057AAT[1]
- NM_001407635.1:c.4057AAT[1]
- NM_001407636.1:c.4057AAT[1]
- NM_001407637.1:c.4057AAT[1]
- NM_001407638.1:c.4057AAT[1]
- NM_001407639.1:c.4060AAT[1]
- NM_001407640.1:c.4060AAT[1]
- NM_001407641.1:c.4060AAT[1]
- NM_001407642.1:c.4060AAT[1]
- NM_001407644.1:c.4057AAT[1]
- NM_001407645.1:c.4057AAT[1]
- NM_001407646.1:c.4051AAT[1]
- NM_001407647.1:c.4051AAT[1]
- NM_001407648.1:c.3937AAT[1]
- NM_001407649.1:c.3934AAT[1]
- NM_001407652.1:c.4060AAT[1]
- NM_001407653.1:c.3982AAT[1]
- NM_001407654.1:c.3982AAT[1]
- NM_001407655.1:c.3982AAT[1]
- NM_001407656.1:c.3982AAT[1]
- NM_001407657.1:c.3982AAT[1]
- NM_001407658.1:c.3982AAT[1]
- NM_001407659.1:c.3979AAT[1]
- NM_001407660.1:c.3979AAT[1]
- NM_001407661.1:c.3979AAT[1]
- NM_001407662.1:c.3979AAT[1]
- NM_001407663.1:c.3982AAT[1]
- NM_001407664.1:c.3937AAT[1]
- NM_001407665.1:c.3937AAT[1]
- NM_001407666.1:c.3937AAT[1]
- NM_001407667.1:c.3937AAT[1]
- NM_001407668.1:c.3937AAT[1]
- NM_001407669.1:c.3937AAT[1]
- NM_001407670.1:c.3934AAT[1]
- NM_001407671.1:c.3934AAT[1]
- NM_001407672.1:c.3934AAT[1]
- NM_001407673.1:c.3934AAT[1]
- NM_001407674.1:c.3937AAT[1]
- NM_001407675.1:c.3937AAT[1]
- NM_001407676.1:c.3937AAT[1]
- NM_001407677.1:c.3937AAT[1]
- NM_001407678.1:c.3937AAT[1]
- NM_001407679.1:c.3937AAT[1]
- NM_001407680.1:c.3937AAT[1]
- NM_001407681.1:c.3937AAT[1]
- NM_001407682.1:c.3937AAT[1]
- NM_001407683.1:c.3937AAT[1]
- NM_001407684.1:c.4060AAT[1]
- NM_001407685.1:c.3934AAT[1]
- NM_001407686.1:c.3934AAT[1]
- NM_001407687.1:c.3934AAT[1]
- NM_001407688.1:c.3934AAT[1]
- NM_001407689.1:c.3934AAT[1]
- NM_001407690.1:c.3934AAT[1]
- NM_001407691.1:c.3934AAT[1]
- NM_001407692.1:c.3919AAT[1]
- NM_001407694.1:c.3919AAT[1]
- NM_001407695.1:c.3919AAT[1]
- NM_001407696.1:c.3919AAT[1]
- NM_001407697.1:c.3919AAT[1]
- NM_001407698.1:c.3919AAT[1]
- NM_001407724.1:c.3919AAT[1]
- NM_001407725.1:c.3919AAT[1]
- NM_001407726.1:c.3919AAT[1]
- NM_001407727.1:c.3919AAT[1]
- NM_001407728.1:c.3919AAT[1]
- NM_001407729.1:c.3919AAT[1]
- NM_001407730.1:c.3919AAT[1]
- NM_001407731.1:c.3919AAT[1]
- NM_001407732.1:c.3919AAT[1]
- NM_001407733.1:c.3919AAT[1]
- NM_001407734.1:c.3919AAT[1]
- NM_001407735.1:c.3919AAT[1]
- NM_001407736.1:c.3919AAT[1]
- NM_001407737.1:c.3919AAT[1]
- NM_001407738.1:c.3919AAT[1]
- NM_001407739.1:c.3919AAT[1]
- NM_001407740.1:c.3916AAT[1]
- NM_001407741.1:c.3916AAT[1]
- NM_001407742.1:c.3916AAT[1]
- NM_001407743.1:c.3916AAT[1]
- NM_001407744.1:c.3916AAT[1]
- NM_001407745.1:c.3916AAT[1]
- NM_001407746.1:c.3916AAT[1]
- NM_001407747.1:c.3916AAT[1]
- NM_001407748.1:c.3916AAT[1]
- NM_001407749.1:c.3916AAT[1]
- NM_001407750.1:c.3919AAT[1]
- NM_001407751.1:c.3919AAT[1]
- NM_001407752.1:c.3919AAT[1]
- NM_001407838.1:c.3916AAT[1]
- NM_001407839.1:c.3916AAT[1]
- NM_001407841.1:c.3916AAT[1]
- NM_001407842.1:c.3916AAT[1]
- NM_001407843.1:c.3916AAT[1]
- NM_001407844.1:c.3916AAT[1]
- NM_001407845.1:c.3916AAT[1]
- NM_001407846.1:c.3916AAT[1]
- NM_001407847.1:c.3916AAT[1]
- NM_001407848.1:c.3916AAT[1]
- NM_001407849.1:c.3916AAT[1]
- NM_001407850.1:c.3919AAT[1]
- NM_001407851.1:c.3919AAT[1]
- NM_001407852.1:c.3919AAT[1]
- NM_001407853.1:c.3847AAT[1]
- NM_001407854.1:c.4060AAT[1]
- NM_001407858.1:c.4060AAT[1]
- NM_001407859.1:c.4060AAT[1]
- NM_001407860.1:c.4057AAT[1]
- NM_001407861.1:c.4057AAT[1]
- NM_001407862.1:c.3859AAT[1]
- NM_001407863.1:c.3937AAT[1]
- NM_001407874.1:c.3856AAT[1]
- NM_001407875.1:c.3856AAT[1]
- NM_001407879.1:c.3850AAT[1]
- NM_001407881.1:c.3850AAT[1]
- NM_001407882.1:c.3850AAT[1]
- NM_001407884.1:c.3850AAT[1]
- NM_001407885.1:c.3850AAT[1]
- NM_001407886.1:c.3850AAT[1]
- NM_001407887.1:c.3850AAT[1]
- NM_001407889.1:c.3850AAT[1]
- NM_001407894.1:c.3847AAT[1]
- NM_001407895.1:c.3847AAT[1]
- NM_001407896.1:c.3847AAT[1]
- NM_001407897.1:c.3847AAT[1]
- NM_001407898.1:c.3847AAT[1]
- NM_001407899.1:c.3847AAT[1]
- NM_001407900.1:c.3850AAT[1]
- NM_001407902.1:c.3850AAT[1]
- NM_001407904.1:c.3850AAT[1]
- NM_001407906.1:c.3850AAT[1]
- NM_001407907.1:c.3850AAT[1]
- NM_001407908.1:c.3850AAT[1]
- NM_001407909.1:c.3850AAT[1]
- NM_001407910.1:c.3850AAT[1]
- NM_001407915.1:c.3847AAT[1]
- NM_001407916.1:c.3847AAT[1]
- NM_001407917.1:c.3847AAT[1]
- NM_001407918.1:c.3847AAT[1]
- NM_001407919.1:c.3937AAT[1]
- NM_001407920.1:c.3796AAT[1]
- NM_001407921.1:c.3796AAT[1]
- NM_001407922.1:c.3796AAT[1]
- NM_001407923.1:c.3796AAT[1]
- NM_001407924.1:c.3796AAT[1]
- NM_001407925.1:c.3796AAT[1]
- NM_001407926.1:c.3796AAT[1]
- NM_001407927.1:c.3796AAT[1]
- NM_001407928.1:c.3796AAT[1]
- NM_001407929.1:c.3796AAT[1]
- NM_001407930.1:c.3793AAT[1]
- NM_001407931.1:c.3793AAT[1]
- NM_001407932.1:c.3793AAT[1]
- NM_001407933.1:c.3796AAT[1]
- NM_001407934.1:c.3793AAT[1]
- NM_001407935.1:c.3796AAT[1]
- NM_001407936.1:c.3793AAT[1]
- NM_001407937.1:c.3937AAT[1]
- NM_001407938.1:c.3937AAT[1]
- NM_001407939.1:c.3937AAT[1]
- NM_001407940.1:c.3934AAT[1]
- NM_001407941.1:c.3934AAT[1]
- NM_001407942.1:c.3919AAT[1]
- NM_001407943.1:c.3916AAT[1]
- NM_001407944.1:c.3919AAT[1]
- NM_001407945.1:c.3919AAT[1]
- NM_001407946.1:c.3727AAT[1]
- NM_001407947.1:c.3727AAT[1]
- NM_001407948.1:c.3727AAT[1]
- NM_001407949.1:c.3727AAT[1]
- NM_001407950.1:c.3727AAT[1]
- NM_001407951.1:c.3727AAT[1]
- NM_001407952.1:c.3727AAT[1]
- NM_001407953.1:c.3727AAT[1]
- NM_001407954.1:c.3724AAT[1]
- NM_001407955.1:c.3724AAT[1]
- NM_001407956.1:c.3724AAT[1]
- NM_001407957.1:c.3727AAT[1]
- NM_001407958.1:c.3724AAT[1]
- NM_001407959.1:c.3679AAT[1]
- NM_001407960.1:c.3679AAT[1]
- NM_001407962.1:c.3676AAT[1]
- NM_001407963.1:c.3679AAT[1]
- NM_001407964.1:c.3916AAT[1]
- NM_001407965.1:c.3556AAT[1]
- NM_001407966.1:c.3172AAT[1]
- NM_001407967.1:c.3172AAT[1]
- NM_001407968.1:c.1456AAT[1]
- NM_001407969.1:c.1456AAT[1]
- NM_001407970.1:c.788-436_788-434del
- NM_001407971.1:c.788-436_788-434del
- NM_001407972.1:c.785-436_785-434del
- NM_001407973.1:c.788-436_788-434del
- NM_001407974.1:c.788-436_788-434del
- NM_001407975.1:c.788-436_788-434del
- NM_001407976.1:c.788-436_788-434del
- NM_001407977.1:c.788-436_788-434del
- NM_001407978.1:c.788-436_788-434del
- NM_001407979.1:c.788-436_788-434del
- NM_001407980.1:c.788-436_788-434del
- NM_001407981.1:c.788-436_788-434del
- NM_001407982.1:c.788-436_788-434del
- NM_001407983.1:c.788-436_788-434del
- NM_001407984.1:c.785-436_785-434del
- NM_001407985.1:c.785-436_785-434del
- NM_001407986.1:c.785-436_785-434del
- NM_001407990.1:c.788-436_788-434del
- NM_001407991.1:c.785-436_785-434del
- NM_001407992.1:c.785-436_785-434del
- NM_001407993.1:c.788-436_788-434del
- NM_001408392.1:c.785-436_785-434del
- NM_001408396.1:c.785-436_785-434del
- NM_001408397.1:c.785-436_785-434del
- NM_001408398.1:c.785-436_785-434del
- NM_001408399.1:c.785-436_785-434del
- NM_001408400.1:c.785-436_785-434del
- NM_001408401.1:c.785-436_785-434del
- NM_001408402.1:c.785-436_785-434del
- NM_001408403.1:c.788-436_788-434del
- NM_001408404.1:c.788-436_788-434del
- NM_001408406.1:c.791-445_791-443del
- NM_001408407.1:c.785-436_785-434del
- NM_001408408.1:c.779-436_779-434del
- NM_001408409.1:c.710-436_710-434del
- NM_001408410.1:c.647-436_647-434del
- NM_001408411.1:c.710-436_710-434del
- NM_001408412.1:c.710-436_710-434del
- NM_001408413.1:c.707-436_707-434del
- NM_001408414.1:c.710-436_710-434del
- NM_001408415.1:c.710-436_710-434del
- NM_001408416.1:c.707-436_707-434del
- NM_001408418.1:c.671-436_671-434del
- NM_001408419.1:c.671-436_671-434del
- NM_001408420.1:c.671-436_671-434del
- NM_001408421.1:c.668-436_668-434del
- NM_001408422.1:c.671-436_671-434del
- NM_001408423.1:c.671-436_671-434del
- NM_001408424.1:c.668-436_668-434del
- NM_001408425.1:c.665-436_665-434del
- NM_001408426.1:c.665-436_665-434del
- NM_001408427.1:c.665-436_665-434del
- NM_001408428.1:c.665-436_665-434del
- NM_001408429.1:c.665-436_665-434del
- NM_001408430.1:c.665-436_665-434del
- NM_001408431.1:c.668-436_668-434del
- NM_001408432.1:c.662-436_662-434del
- NM_001408433.1:c.662-436_662-434del
- NM_001408434.1:c.662-436_662-434del
- NM_001408435.1:c.662-436_662-434del
- NM_001408436.1:c.665-436_665-434del
- NM_001408437.1:c.665-436_665-434del
- NM_001408438.1:c.665-436_665-434del
- NM_001408439.1:c.665-436_665-434del
- NM_001408440.1:c.665-436_665-434del
- NM_001408441.1:c.665-436_665-434del
- NM_001408442.1:c.665-436_665-434del
- NM_001408443.1:c.665-436_665-434del
- NM_001408444.1:c.665-436_665-434del
- NM_001408445.1:c.662-436_662-434del
- NM_001408446.1:c.662-436_662-434del
- NM_001408447.1:c.662-436_662-434del
- NM_001408448.1:c.662-436_662-434del
- NM_001408450.1:c.662-436_662-434del
- NM_001408451.1:c.653-436_653-434del
- NM_001408452.1:c.647-436_647-434del
- NM_001408453.1:c.647-436_647-434del
- NM_001408454.1:c.647-436_647-434del
- NM_001408455.1:c.647-436_647-434del
- NM_001408456.1:c.647-436_647-434del
- NM_001408457.1:c.647-436_647-434del
- NM_001408458.1:c.647-436_647-434del
- NM_001408459.1:c.647-436_647-434del
- NM_001408460.1:c.647-436_647-434del
- NM_001408461.1:c.647-436_647-434del
- NM_001408462.1:c.644-436_644-434del
- NM_001408463.1:c.644-436_644-434del
- NM_001408464.1:c.644-436_644-434del
- NM_001408465.1:c.644-436_644-434del
- NM_001408466.1:c.647-436_647-434del
- NM_001408467.1:c.647-436_647-434del
- NM_001408468.1:c.644-436_644-434del
- NM_001408469.1:c.647-436_647-434del
- NM_001408470.1:c.644-436_644-434del
- NM_001408472.1:c.788-436_788-434del
- NM_001408473.1:c.785-436_785-434del
- NM_001408474.1:c.587-436_587-434del
- NM_001408475.1:c.584-436_584-434del
- NM_001408476.1:c.587-436_587-434del
- NM_001408478.1:c.578-436_578-434del
- NM_001408479.1:c.578-436_578-434del
- NM_001408480.1:c.578-436_578-434del
- NM_001408481.1:c.578-436_578-434del
- NM_001408482.1:c.578-436_578-434del
- NM_001408483.1:c.578-436_578-434del
- NM_001408484.1:c.578-436_578-434del
- NM_001408485.1:c.578-436_578-434del
- NM_001408489.1:c.578-436_578-434del
- NM_001408490.1:c.575-436_575-434del
- NM_001408491.1:c.575-436_575-434del
- NM_001408492.1:c.578-436_578-434del
- NM_001408493.1:c.575-436_575-434del
- NM_001408494.1:c.548-436_548-434del
- NM_001408495.1:c.545-436_545-434del
- NM_001408496.1:c.524-436_524-434del
- NM_001408497.1:c.524-436_524-434del
- NM_001408498.1:c.524-436_524-434del
- NM_001408499.1:c.524-436_524-434del
- NM_001408500.1:c.524-436_524-434del
- NM_001408501.1:c.524-436_524-434del
- NM_001408502.1:c.455-436_455-434del
- NM_001408503.1:c.521-436_521-434del
- NM_001408504.1:c.521-436_521-434del
- NM_001408505.1:c.521-436_521-434del
- NM_001408506.1:c.461-436_461-434del
- NM_001408507.1:c.461-436_461-434del
- NM_001408508.1:c.452-436_452-434del
- NM_001408509.1:c.452-436_452-434del
- NM_001408510.1:c.407-436_407-434del
- NM_001408511.1:c.404-436_404-434del
- NM_001408512.1:c.284-436_284-434del
- NM_001408513.1:c.578-436_578-434del
- NM_001408514.1:c.578-436_578-434del
- NM_007294.4:c.4060AAT[1]MANE SELECT
- NM_007297.4:c.3919AAT[1]
- NM_007298.4:c.788-436_788-434del
- NM_007299.4:c.788-436_788-434del
- NM_007300.4:c.4060AAT[1]
- NP_001394500.1:p.Asn1284del
- NP_001394510.1:p.Asn1355del
- NP_001394511.1:p.Asn1355del
- NP_001394512.1:p.Asn1355del
- NP_001394514.1:p.Asn1355del
- NP_001394516.1:p.Asn1354del
- NP_001394519.1:p.Asn1354del
- NP_001394520.1:p.Asn1354del
- NP_001394522.1:p.Asn1355del
- NP_001394523.1:p.Asn1355del
- NP_001394525.1:p.Asn1355del
- NP_001394526.1:p.Asn1355del
- NP_001394527.1:p.Asn1355del
- NP_001394531.1:p.Asn1355del
- NP_001394532.1:p.Asn1355del
- NP_001394534.1:p.Asn1355del
- NP_001394539.1:p.Asn1354del
- NP_001394540.1:p.Asn1354del
- NP_001394541.1:p.Asn1354del
- NP_001394542.1:p.Asn1354del
- NP_001394543.1:p.Asn1354del
- NP_001394544.1:p.Asn1354del
- NP_001394545.1:p.Asn1355del
- NP_001394546.1:p.Asn1355del
- NP_001394547.1:p.Asn1355del
- NP_001394548.1:p.Asn1355del
- NP_001394549.1:p.Asn1355del
- NP_001394550.1:p.Asn1355del
- NP_001394551.1:p.Asn1355del
- NP_001394552.1:p.Asn1355del
- NP_001394553.1:p.Asn1355del
- NP_001394554.1:p.Asn1355del
- NP_001394555.1:p.Asn1355del
- NP_001394556.1:p.Asn1354del
- NP_001394557.1:p.Asn1354del
- NP_001394558.1:p.Asn1354del
- NP_001394559.1:p.Asn1354del
- NP_001394560.1:p.Asn1354del
- NP_001394561.1:p.Asn1354del
- NP_001394562.1:p.Asn1354del
- NP_001394563.1:p.Asn1354del
- NP_001394564.1:p.Asn1354del
- NP_001394565.1:p.Asn1354del
- NP_001394566.1:p.Asn1354del
- NP_001394567.1:p.Asn1354del
- NP_001394568.1:p.Asn1355del
- NP_001394569.1:p.Asn1355del
- NP_001394570.1:p.Asn1355del
- NP_001394571.1:p.Asn1355del
- NP_001394573.1:p.Asn1354del
- NP_001394574.1:p.Asn1354del
- NP_001394575.1:p.Asn1352del
- NP_001394576.1:p.Asn1352del
- NP_001394577.1:p.Asn1314del
- NP_001394578.1:p.Asn1313del
- NP_001394581.1:p.Asn1355del
- NP_001394582.1:p.Asn1329del
- NP_001394583.1:p.Asn1329del
- NP_001394584.1:p.Asn1329del
- NP_001394585.1:p.Asn1329del
- NP_001394586.1:p.Asn1329del
- NP_001394587.1:p.Asn1329del
- NP_001394588.1:p.Asn1328del
- NP_001394589.1:p.Asn1328del
- NP_001394590.1:p.Asn1328del
- NP_001394591.1:p.Asn1328del
- NP_001394592.1:p.Asn1329del
- NP_001394593.1:p.Asn1314del
- NP_001394594.1:p.Asn1314del
- NP_001394595.1:p.Asn1314del
- NP_001394596.1:p.Asn1314del
- NP_001394597.1:p.Asn1314del
- NP_001394598.1:p.Asn1314del
- NP_001394599.1:p.Asn1313del
- NP_001394600.1:p.Asn1313del
- NP_001394601.1:p.Asn1313del
- NP_001394602.1:p.Asn1313del
- NP_001394603.1:p.Asn1314del
- NP_001394604.1:p.Asn1314del
- NP_001394605.1:p.Asn1314del
- NP_001394606.1:p.Asn1314del
- NP_001394607.1:p.Asn1314del
- NP_001394608.1:p.Asn1314del
- NP_001394609.1:p.Asn1314del
- NP_001394610.1:p.Asn1314del
- NP_001394611.1:p.Asn1314del
- NP_001394612.1:p.Asn1314del
- NP_001394613.1:p.Asn1355del
- NP_001394614.1:p.Asn1313del
- NP_001394615.1:p.Asn1313del
- NP_001394616.1:p.Asn1313del
- NP_001394617.1:p.Asn1313del
- NP_001394618.1:p.Asn1313del
- NP_001394619.1:p.Asn1313del
- NP_001394620.1:p.Asn1313del
- NP_001394621.1:p.Asn1308del
- NP_001394623.1:p.Asn1308del
- NP_001394624.1:p.Asn1308del
- NP_001394625.1:p.Asn1308del
- NP_001394626.1:p.Asn1308del
- NP_001394627.1:p.Asn1308del
- NP_001394653.1:p.Asn1308del
- NP_001394654.1:p.Asn1308del
- NP_001394655.1:p.Asn1308del
- NP_001394656.1:p.Asn1308del
- NP_001394657.1:p.Asn1308del
- NP_001394658.1:p.Asn1308del
- NP_001394659.1:p.Asn1308del
- NP_001394660.1:p.Asn1308del
- NP_001394661.1:p.Asn1308del
- NP_001394662.1:p.Asn1308del
- NP_001394663.1:p.Asn1308del
- NP_001394664.1:p.Asn1308del
- NP_001394665.1:p.Asn1308del
- NP_001394666.1:p.Asn1308del
- NP_001394667.1:p.Asn1308del
- NP_001394668.1:p.Asn1308del
- NP_001394669.1:p.Asn1307del
- NP_001394670.1:p.Asn1307del
- NP_001394671.1:p.Asn1307del
- NP_001394672.1:p.Asn1307del
- NP_001394673.1:p.Asn1307del
- NP_001394674.1:p.Asn1307del
- NP_001394675.1:p.Asn1307del
- NP_001394676.1:p.Asn1307del
- NP_001394677.1:p.Asn1307del
- NP_001394678.1:p.Asn1307del
- NP_001394679.1:p.Asn1308del
- NP_001394680.1:p.Asn1308del
- NP_001394681.1:p.Asn1308del
- NP_001394767.1:p.Asn1307del
- NP_001394768.1:p.Asn1307del
- NP_001394770.1:p.Asn1307del
- NP_001394771.1:p.Asn1307del
- NP_001394772.1:p.Asn1307del
- NP_001394773.1:p.Asn1307del
- NP_001394774.1:p.Asn1307del
- NP_001394775.1:p.Asn1307del
- NP_001394776.1:p.Asn1307del
- NP_001394777.1:p.Asn1307del
- NP_001394778.1:p.Asn1307del
- NP_001394779.1:p.Asn1308del
- NP_001394780.1:p.Asn1308del
- NP_001394781.1:p.Asn1308del
- NP_001394782.1:p.Asn1284del
- NP_001394783.1:p.Asn1355del
- NP_001394787.1:p.Asn1355del
- NP_001394788.1:p.Asn1355del
- NP_001394789.1:p.Asn1354del
- NP_001394790.1:p.Asn1354del
- NP_001394791.1:p.Asn1288del
- NP_001394792.1:p.Asn1314del
- NP_001394803.1:p.Asn1287del
- NP_001394804.1:p.Asn1287del
- NP_001394808.1:p.Asn1285del
- NP_001394810.1:p.Asn1285del
- NP_001394811.1:p.Asn1285del
- NP_001394813.1:p.Asn1285del
- NP_001394814.1:p.Asn1285del
- NP_001394815.1:p.Asn1285del
- NP_001394816.1:p.Asn1285del
- NP_001394818.1:p.Asn1285del
- NP_001394823.1:p.Asn1284del
- NP_001394824.1:p.Asn1284del
- NP_001394825.1:p.Asn1284del
- NP_001394826.1:p.Asn1284del
- NP_001394827.1:p.Asn1284del
- NP_001394828.1:p.Asn1284del
- NP_001394829.1:p.Asn1285del
- NP_001394831.1:p.Asn1285del
- NP_001394833.1:p.Asn1285del
- NP_001394835.1:p.Asn1285del
- NP_001394836.1:p.Asn1285del
- NP_001394837.1:p.Asn1285del
- NP_001394838.1:p.Asn1285del
- NP_001394839.1:p.Asn1285del
- NP_001394844.1:p.Asn1284del
- NP_001394845.1:p.Asn1284del
- NP_001394846.1:p.Asn1284del
- NP_001394847.1:p.Asn1284del
- NP_001394848.1:p.Asn1314del
- NP_001394849.1:p.Asn1267del
- NP_001394850.1:p.Asn1267del
- NP_001394851.1:p.Asn1267del
- NP_001394852.1:p.Asn1267del
- NP_001394853.1:p.Asn1267del
- NP_001394854.1:p.Asn1267del
- NP_001394855.1:p.Asn1267del
- NP_001394856.1:p.Asn1267del
- NP_001394857.1:p.Asn1267del
- NP_001394858.1:p.Asn1267del
- NP_001394859.1:p.Asn1266del
- NP_001394860.1:p.Asn1266del
- NP_001394861.1:p.Asn1266del
- NP_001394862.1:p.Asn1267del
- NP_001394863.1:p.Asn1266del
- NP_001394864.1:p.Asn1267del
- NP_001394865.1:p.Asn1266del
- NP_001394866.1:p.Asn1314del
- NP_001394867.1:p.Asn1314del
- NP_001394868.1:p.Asn1314del
- NP_001394869.1:p.Asn1313del
- NP_001394870.1:p.Asn1313del
- NP_001394871.1:p.Asn1308del
- NP_001394872.1:p.Asn1307del
- NP_001394873.1:p.Asn1308del
- NP_001394874.1:p.Asn1308del
- NP_001394875.1:p.Asn1244del
- NP_001394876.1:p.Asn1244del
- NP_001394877.1:p.Asn1244del
- NP_001394878.1:p.Asn1244del
- NP_001394879.1:p.Asn1244del
- NP_001394880.1:p.Asn1244del
- NP_001394881.1:p.Asn1244del
- NP_001394882.1:p.Asn1244del
- NP_001394883.1:p.Asn1243del
- NP_001394884.1:p.Asn1243del
- NP_001394885.1:p.Asn1243del
- NP_001394886.1:p.Asn1244del
- NP_001394887.1:p.Asn1243del
- NP_001394888.1:p.Asn1228del
- NP_001394889.1:p.Asn1228del
- NP_001394891.1:p.Asn1227del
- NP_001394892.1:p.Asn1228del
- NP_001394893.1:p.Asn1307del
- NP_001394894.1:p.Asn1187del
- NP_001394895.1:p.Asn1059del
- NP_001394896.1:p.Asn1059del
- NP_001394897.1:p.Asn487del
- NP_001394898.1:p.Asn487del
- NP_009225.1:p.Asn1355del
- NP_009225.1:p.Asn1355del
- NP_009228.2:p.Asn1308del
- NP_009231.2:p.Asn1355del
- LRG_292t1:c.4060_4062AAT[1]
- LRG_292:g.126513AAT[1]
- LRG_292p1:p.Asn1355del
- NC_000017.10:g.41243483ATT[1]
- NC_000017.10:g.41243483_41243485delATT
- NC_000017.10:g.41243486_41243488del
- NM_007294.3:c.4060_4062AAT[1]
- NM_007294.3:c.4063_4065delAAT
- NM_007294.4:c.4063_4065delAATMANE SELECT
- NR_027676.1:n.4196_4198AAT[1]
- U14680.1:n.4182_4184delAAT
- p.N1355del
This HGVS expression did not pass validation- Protein change:
- N1059del
- Links:
- dbSNP: rs80358341
- NCBI 1000 Genomes Browser:
- rs80358341
- Molecular consequence:
- NM_001407571.1:c.3847AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407581.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407582.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407583.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407585.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407587.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407590.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407591.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407593.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407594.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407596.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407597.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407598.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407602.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407603.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407605.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407610.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407611.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407612.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407613.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407614.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407615.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407616.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407617.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407618.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407619.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407620.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407621.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407622.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407623.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407624.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407625.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407626.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407627.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407628.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407629.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407630.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407631.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407632.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407633.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407634.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407635.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407636.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407637.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407638.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407639.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407640.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407641.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407642.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407644.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407645.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407646.1:c.4051AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407647.1:c.4051AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407648.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407649.1:c.3934AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407652.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407653.1:c.3982AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407654.1:c.3982AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407655.1:c.3982AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407656.1:c.3982AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407657.1:c.3982AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407658.1:c.3982AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407659.1:c.3979AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407660.1:c.3979AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407661.1:c.3979AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407662.1:c.3979AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407663.1:c.3982AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407664.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407665.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407666.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407667.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407668.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407669.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407670.1:c.3934AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407671.1:c.3934AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407672.1:c.3934AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407673.1:c.3934AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407674.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407675.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407676.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407677.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407678.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407679.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407680.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407681.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407682.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407683.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407684.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407685.1:c.3934AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407686.1:c.3934AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407687.1:c.3934AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407688.1:c.3934AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407689.1:c.3934AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407690.1:c.3934AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407691.1:c.3934AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407692.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407694.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407695.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407696.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407697.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407698.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407724.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407725.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407726.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407727.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407728.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407729.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407730.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407731.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407732.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407733.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407734.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407735.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407736.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407737.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407738.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407739.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407740.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407741.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407742.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407743.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407744.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407745.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407746.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407747.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407748.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407749.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407750.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407751.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407752.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407838.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407839.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407841.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407842.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407843.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407844.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407845.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407846.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407847.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407848.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407849.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407850.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407851.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407852.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407853.1:c.3847AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407854.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407858.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407859.1:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407860.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407861.1:c.4057AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407862.1:c.3859AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407863.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407874.1:c.3856AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407875.1:c.3856AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407879.1:c.3850AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407881.1:c.3850AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407882.1:c.3850AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407884.1:c.3850AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407885.1:c.3850AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407886.1:c.3850AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407887.1:c.3850AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407889.1:c.3850AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407894.1:c.3847AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407895.1:c.3847AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407896.1:c.3847AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407897.1:c.3847AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407898.1:c.3847AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407899.1:c.3847AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407900.1:c.3850AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407902.1:c.3850AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407904.1:c.3850AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407906.1:c.3850AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407907.1:c.3850AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407908.1:c.3850AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407909.1:c.3850AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407910.1:c.3850AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407915.1:c.3847AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407916.1:c.3847AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407917.1:c.3847AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407918.1:c.3847AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407919.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407920.1:c.3796AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407921.1:c.3796AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407922.1:c.3796AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407923.1:c.3796AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407924.1:c.3796AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407925.1:c.3796AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407926.1:c.3796AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407927.1:c.3796AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407928.1:c.3796AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407929.1:c.3796AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407930.1:c.3793AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407931.1:c.3793AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407932.1:c.3793AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407933.1:c.3796AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407934.1:c.3793AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407935.1:c.3796AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407936.1:c.3793AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407937.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407938.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407939.1:c.3937AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407940.1:c.3934AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407941.1:c.3934AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407942.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407943.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407944.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407945.1:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407946.1:c.3727AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407947.1:c.3727AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407948.1:c.3727AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407949.1:c.3727AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407950.1:c.3727AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407951.1:c.3727AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407952.1:c.3727AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407953.1:c.3727AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407954.1:c.3724AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407955.1:c.3724AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407956.1:c.3724AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407957.1:c.3727AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407958.1:c.3724AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407959.1:c.3679AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407960.1:c.3679AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407962.1:c.3676AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407963.1:c.3679AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407964.1:c.3916AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407965.1:c.3556AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407966.1:c.3172AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407967.1:c.3172AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407968.1:c.1456AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407969.1:c.1456AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_007294.4:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_007297.4:c.3919AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_007300.4:c.4060AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
- NM_001407970.1:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.785-436_785-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.785-436_785-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.785-436_785-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.785-436_785-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.785-436_785-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.785-436_785-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.785-436_785-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.785-436_785-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.785-436_785-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.785-436_785-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.785-436_785-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.785-436_785-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.785-436_785-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.785-436_785-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.791-445_791-443del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.785-436_785-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.779-436_779-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.710-436_710-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.647-436_647-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.710-436_710-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.710-436_710-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.707-436_707-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.710-436_710-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.710-436_710-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.707-436_707-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-436_671-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-436_671-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-436_671-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-436_668-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-436_671-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-436_671-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-436_668-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.665-436_665-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.665-436_665-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.665-436_665-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.665-436_665-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.665-436_665-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.665-436_665-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-436_668-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.662-436_662-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.662-436_662-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.662-436_662-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.662-436_662-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.665-436_665-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.665-436_665-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.665-436_665-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.665-436_665-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.665-436_665-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.665-436_665-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.665-436_665-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.665-436_665-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.665-436_665-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.662-436_662-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.662-436_662-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.662-436_662-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.662-436_662-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.662-436_662-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.653-436_653-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.647-436_647-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.647-436_647-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.647-436_647-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.647-436_647-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.647-436_647-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.647-436_647-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.647-436_647-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.647-436_647-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.647-436_647-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.647-436_647-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.644-436_644-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.644-436_644-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.644-436_644-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.644-436_644-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.647-436_647-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.647-436_647-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.644-436_644-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.647-436_647-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.644-436_644-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.785-436_785-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.587-436_587-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.584-436_584-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.587-436_587-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.578-436_578-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.578-436_578-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.578-436_578-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.578-436_578-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.578-436_578-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.578-436_578-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.578-436_578-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.578-436_578-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.578-436_578-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.575-436_575-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.575-436_575-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.578-436_578-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.575-436_575-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-436_548-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-436_545-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.524-436_524-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.524-436_524-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.524-436_524-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.524-436_524-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.524-436_524-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.524-436_524-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.455-436_455-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.521-436_521-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.521-436_521-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.521-436_521-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-436_461-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-436_461-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.452-436_452-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.452-436_452-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.407-436_407-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-436_404-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.284-436_284-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.578-436_578-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.578-436_578-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.788-436_788-434del - intron variant - [Sequence Ontology: SO:0001627]
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000293645 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification Process June 2021) | Uncertain significance (Nov 13, 2019) | germline | clinical testing | |
SCV000887684 | Quest Diagnostics Nichols Institute San Juan Capistrano | criteria provided, single submitter (Quest Diagnostics criteria) | Uncertain significance (Nov 24, 2017) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.
Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.
- PMID:
- 26467025
- PMCID:
- PMC4737317
Details of each submission
From GeneDx, SCV000293645.11
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
In-frame deletion of 1 amino acid in a non-repeat region; Observed in individuals with personal or family history of breast and ovarian cancer (Konstantopoulou 2008, Loizidou 2017); Observed with a pathogenic BRCA1 variant, phase unknown, in unrelated individuals referred for genetic testing at GeneDx and in published literature (Lara 2012); Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Located in a critical functional domain: SCD domain (Narod 2004, Clark 2012); Also known as 4182_4184delAAT; This variant is associated with the following publications: (PMID: 27882536, 17453335, 31658756, 28726806, 23096355)
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000887684.2
# | 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 |
Last Updated: Sep 16, 2024