NM_007294.4(BRCA1):c.4062_4068del (p.Asn1354fs) AND Breast and/or ovarian cancer
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 11, 2019
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- 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:
- RCV001271019.9
Allele description [Variation Report for NM_007294.4(BRCA1):c.4062_4068del (p.Asn1354fs)]
NM_007294.4(BRCA1):c.4062_4068del (p.Asn1354fs)
- Genes:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene] - Variant type:
- Deletion
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.4062_4068del (p.Asn1354fs)
- Other names:
- 4181del7
- HGVS:
- NC_000017.11:g.43091465_43091471del
- NG_005905.2:g.126515_126521del
- NG_087068.1:g.447_453del
- NM_001407571.1:c.3849_3855del
- NM_001407581.1:c.4062_4068del
- NM_001407582.1:c.4062_4068del
- NM_001407583.1:c.4062_4068del
- NM_001407585.1:c.4062_4068del
- NM_001407587.1:c.4059_4065del
- NM_001407590.1:c.4059_4065del
- NM_001407591.1:c.4059_4065del
- NM_001407593.1:c.4062_4068del
- NM_001407594.1:c.4062_4068del
- NM_001407596.1:c.4062_4068del
- NM_001407597.1:c.4062_4068del
- NM_001407598.1:c.4062_4068del
- NM_001407602.1:c.4062_4068del
- NM_001407603.1:c.4062_4068del
- NM_001407605.1:c.4062_4068del
- NM_001407610.1:c.4059_4065del
- NM_001407611.1:c.4059_4065del
- NM_001407612.1:c.4059_4065del
- NM_001407613.1:c.4059_4065del
- NM_001407614.1:c.4059_4065del
- NM_001407615.1:c.4059_4065del
- NM_001407616.1:c.4062_4068del
- NM_001407617.1:c.4062_4068del
- NM_001407618.1:c.4062_4068del
- NM_001407619.1:c.4062_4068del
- NM_001407620.1:c.4062_4068del
- NM_001407621.1:c.4062_4068del
- NM_001407622.1:c.4062_4068del
- NM_001407623.1:c.4062_4068del
- NM_001407624.1:c.4062_4068del
- NM_001407625.1:c.4062_4068del
- NM_001407626.1:c.4062_4068del
- NM_001407627.1:c.4059_4065del
- NM_001407628.1:c.4059_4065del
- NM_001407629.1:c.4059_4065del
- NM_001407630.1:c.4059_4065del
- NM_001407631.1:c.4059_4065del
- NM_001407632.1:c.4059_4065del
- NM_001407633.1:c.4059_4065del
- NM_001407634.1:c.4059_4065del
- NM_001407635.1:c.4059_4065del
- NM_001407636.1:c.4059_4065del
- NM_001407637.1:c.4059_4065del
- NM_001407638.1:c.4059_4065del
- NM_001407639.1:c.4062_4068del
- NM_001407640.1:c.4062_4068del
- NM_001407641.1:c.4062_4068del
- NM_001407642.1:c.4062_4068del
- NM_001407644.1:c.4059_4065del
- NM_001407645.1:c.4059_4065del
- NM_001407646.1:c.4053_4059del
- NM_001407647.1:c.4053_4059del
- NM_001407648.1:c.3939_3945del
- NM_001407649.1:c.3936_3942del
- NM_001407652.1:c.4062_4068del
- NM_001407653.1:c.3984_3990del
- NM_001407654.1:c.3984_3990del
- NM_001407655.1:c.3984_3990del
- NM_001407656.1:c.3984_3990del
- NM_001407657.1:c.3984_3990del
- NM_001407658.1:c.3984_3990del
- NM_001407659.1:c.3981_3987del
- NM_001407660.1:c.3981_3987del
- NM_001407661.1:c.3981_3987del
- NM_001407662.1:c.3981_3987del
- NM_001407663.1:c.3984_3990del
- NM_001407664.1:c.3939_3945del
- NM_001407665.1:c.3939_3945del
- NM_001407666.1:c.3939_3945del
- NM_001407667.1:c.3939_3945del
- NM_001407668.1:c.3939_3945del
- NM_001407669.1:c.3939_3945del
- NM_001407670.1:c.3936_3942del
- NM_001407671.1:c.3936_3942del
- NM_001407672.1:c.3936_3942del
- NM_001407673.1:c.3936_3942del
- NM_001407674.1:c.3939_3945del
- NM_001407675.1:c.3939_3945del
- NM_001407676.1:c.3939_3945del
- NM_001407677.1:c.3939_3945del
- NM_001407678.1:c.3939_3945del
- NM_001407679.1:c.3939_3945del
- NM_001407680.1:c.3939_3945del
- NM_001407681.1:c.3939_3945del
- NM_001407682.1:c.3939_3945del
- NM_001407683.1:c.3939_3945del
- NM_001407684.1:c.4062_4068del
- NM_001407685.1:c.3936_3942del
- NM_001407686.1:c.3936_3942del
- NM_001407687.1:c.3936_3942del
- NM_001407688.1:c.3936_3942del
- NM_001407689.1:c.3936_3942del
- NM_001407690.1:c.3936_3942del
- NM_001407691.1:c.3936_3942del
- NM_001407692.1:c.3921_3927del
- NM_001407694.1:c.3921_3927del
- NM_001407695.1:c.3921_3927del
- NM_001407696.1:c.3921_3927del
- NM_001407697.1:c.3921_3927del
- NM_001407698.1:c.3921_3927del
- NM_001407724.1:c.3921_3927del
- NM_001407725.1:c.3921_3927del
- NM_001407726.1:c.3921_3927del
- NM_001407727.1:c.3921_3927del
- NM_001407728.1:c.3921_3927del
- NM_001407729.1:c.3921_3927del
- NM_001407730.1:c.3921_3927del
- NM_001407731.1:c.3921_3927del
- NM_001407732.1:c.3921_3927del
- NM_001407733.1:c.3921_3927del
- NM_001407734.1:c.3921_3927del
- NM_001407735.1:c.3921_3927del
- NM_001407736.1:c.3921_3927del
- NM_001407737.1:c.3921_3927del
- NM_001407738.1:c.3921_3927del
- NM_001407739.1:c.3921_3927del
- NM_001407740.1:c.3918_3924del
- NM_001407741.1:c.3918_3924del
- NM_001407742.1:c.3918_3924del
- NM_001407743.1:c.3918_3924del
- NM_001407744.1:c.3918_3924del
- NM_001407745.1:c.3918_3924del
- NM_001407746.1:c.3918_3924del
- NM_001407747.1:c.3918_3924del
- NM_001407748.1:c.3918_3924del
- NM_001407749.1:c.3918_3924del
- NM_001407750.1:c.3921_3927del
- NM_001407751.1:c.3921_3927del
- NM_001407752.1:c.3921_3927del
- NM_001407838.1:c.3918_3924del
- NM_001407839.1:c.3918_3924del
- NM_001407841.1:c.3918_3924del
- NM_001407842.1:c.3918_3924del
- NM_001407843.1:c.3918_3924del
- NM_001407844.1:c.3918_3924del
- NM_001407845.1:c.3918_3924del
- NM_001407846.1:c.3918_3924del
- NM_001407847.1:c.3918_3924del
- NM_001407848.1:c.3918_3924del
- NM_001407849.1:c.3918_3924del
- NM_001407850.1:c.3921_3927del
- NM_001407851.1:c.3921_3927del
- NM_001407852.1:c.3921_3927del
- NM_001407853.1:c.3849_3855del
- NM_001407854.1:c.4062_4068del
- NM_001407858.1:c.4062_4068del
- NM_001407859.1:c.4062_4068del
- NM_001407860.1:c.4059_4065del
- NM_001407861.1:c.4059_4065del
- NM_001407862.1:c.3861_3867del
- NM_001407863.1:c.3939_3945del
- NM_001407874.1:c.3858_3864del
- NM_001407875.1:c.3858_3864del
- NM_001407879.1:c.3852_3858del
- NM_001407881.1:c.3852_3858del
- NM_001407882.1:c.3852_3858del
- NM_001407884.1:c.3852_3858del
- NM_001407885.1:c.3852_3858del
- NM_001407886.1:c.3852_3858del
- NM_001407887.1:c.3852_3858del
- NM_001407889.1:c.3852_3858del
- NM_001407894.1:c.3849_3855del
- NM_001407895.1:c.3849_3855del
- NM_001407896.1:c.3849_3855del
- NM_001407897.1:c.3849_3855del
- NM_001407898.1:c.3849_3855del
- NM_001407899.1:c.3849_3855del
- NM_001407900.1:c.3852_3858del
- NM_001407902.1:c.3852_3858del
- NM_001407904.1:c.3852_3858del
- NM_001407906.1:c.3852_3858del
- NM_001407907.1:c.3852_3858del
- NM_001407908.1:c.3852_3858del
- NM_001407909.1:c.3852_3858del
- NM_001407910.1:c.3852_3858del
- NM_001407915.1:c.3849_3855del
- NM_001407916.1:c.3849_3855del
- NM_001407917.1:c.3849_3855del
- NM_001407918.1:c.3849_3855del
- NM_001407919.1:c.3939_3945del
- NM_001407920.1:c.3798_3804del
- NM_001407921.1:c.3798_3804del
- NM_001407922.1:c.3798_3804del
- NM_001407923.1:c.3798_3804del
- NM_001407924.1:c.3798_3804del
- NM_001407925.1:c.3798_3804del
- NM_001407926.1:c.3798_3804del
- NM_001407927.1:c.3798_3804del
- NM_001407928.1:c.3798_3804del
- NM_001407929.1:c.3798_3804del
- NM_001407930.1:c.3795_3801del
- NM_001407931.1:c.3795_3801del
- NM_001407932.1:c.3795_3801del
- NM_001407933.1:c.3798_3804del
- NM_001407934.1:c.3795_3801del
- NM_001407935.1:c.3798_3804del
- NM_001407936.1:c.3795_3801del
- NM_001407937.1:c.3939_3945del
- NM_001407938.1:c.3939_3945del
- NM_001407939.1:c.3939_3945del
- NM_001407940.1:c.3936_3942del
- NM_001407941.1:c.3936_3942del
- NM_001407942.1:c.3921_3927del
- NM_001407943.1:c.3918_3924del
- NM_001407944.1:c.3921_3927del
- NM_001407945.1:c.3921_3927del
- NM_001407946.1:c.3729_3735del
- NM_001407947.1:c.3729_3735del
- NM_001407948.1:c.3729_3735del
- NM_001407949.1:c.3729_3735del
- NM_001407950.1:c.3729_3735del
- NM_001407951.1:c.3729_3735del
- NM_001407952.1:c.3729_3735del
- NM_001407953.1:c.3729_3735del
- NM_001407954.1:c.3726_3732del
- NM_001407955.1:c.3726_3732del
- NM_001407956.1:c.3726_3732del
- NM_001407957.1:c.3729_3735del
- NM_001407958.1:c.3726_3732del
- NM_001407959.1:c.3681_3687del
- NM_001407960.1:c.3681_3687del
- NM_001407962.1:c.3678_3684del
- NM_001407963.1:c.3681_3687del
- NM_001407964.1:c.3918_3924del
- NM_001407965.1:c.3558_3564del
- NM_001407966.1:c.3174_3180del
- NM_001407967.1:c.3174_3180del
- NM_001407968.1:c.1458_1464del
- NM_001407969.1:c.1458_1464del
- NM_001407970.1:c.788-437_788-431del
- NM_001407971.1:c.788-437_788-431del
- NM_001407972.1:c.785-437_785-431del
- NM_001407973.1:c.788-437_788-431del
- NM_001407974.1:c.788-437_788-431del
- NM_001407975.1:c.788-437_788-431del
- NM_001407976.1:c.788-437_788-431del
- NM_001407977.1:c.788-437_788-431del
- NM_001407978.1:c.788-437_788-431del
- NM_001407979.1:c.788-437_788-431del
- NM_001407980.1:c.788-437_788-431del
- NM_001407981.1:c.788-437_788-431del
- NM_001407982.1:c.788-437_788-431del
- NM_001407983.1:c.788-437_788-431del
- NM_001407984.1:c.785-437_785-431del
- NM_001407985.1:c.785-437_785-431del
- NM_001407986.1:c.785-437_785-431del
- NM_001407990.1:c.788-437_788-431del
- NM_001407991.1:c.785-437_785-431del
- NM_001407992.1:c.785-437_785-431del
- NM_001407993.1:c.788-437_788-431del
- NM_001408392.1:c.785-437_785-431del
- NM_001408396.1:c.785-437_785-431del
- NM_001408397.1:c.785-437_785-431del
- NM_001408398.1:c.785-437_785-431del
- NM_001408399.1:c.785-437_785-431del
- NM_001408400.1:c.785-437_785-431del
- NM_001408401.1:c.785-437_785-431del
- NM_001408402.1:c.785-437_785-431del
- NM_001408403.1:c.788-437_788-431del
- NM_001408404.1:c.788-437_788-431del
- NM_001408406.1:c.791-446_791-440del
- NM_001408407.1:c.785-437_785-431del
- NM_001408408.1:c.779-437_779-431del
- NM_001408409.1:c.710-437_710-431del
- NM_001408410.1:c.647-437_647-431del
- NM_001408411.1:c.710-437_710-431del
- NM_001408412.1:c.710-437_710-431del
- NM_001408413.1:c.707-437_707-431del
- NM_001408414.1:c.710-437_710-431del
- NM_001408415.1:c.710-437_710-431del
- NM_001408416.1:c.707-437_707-431del
- NM_001408418.1:c.671-437_671-431del
- NM_001408419.1:c.671-437_671-431del
- NM_001408420.1:c.671-437_671-431del
- NM_001408421.1:c.668-437_668-431del
- NM_001408422.1:c.671-437_671-431del
- NM_001408423.1:c.671-437_671-431del
- NM_001408424.1:c.668-437_668-431del
- NM_001408425.1:c.665-437_665-431del
- NM_001408426.1:c.665-437_665-431del
- NM_001408427.1:c.665-437_665-431del
- NM_001408428.1:c.665-437_665-431del
- NM_001408429.1:c.665-437_665-431del
- NM_001408430.1:c.665-437_665-431del
- NM_001408431.1:c.668-437_668-431del
- NM_001408432.1:c.662-437_662-431del
- NM_001408433.1:c.662-437_662-431del
- NM_001408434.1:c.662-437_662-431del
- NM_001408435.1:c.662-437_662-431del
- NM_001408436.1:c.665-437_665-431del
- NM_001408437.1:c.665-437_665-431del
- NM_001408438.1:c.665-437_665-431del
- NM_001408439.1:c.665-437_665-431del
- NM_001408440.1:c.665-437_665-431del
- NM_001408441.1:c.665-437_665-431del
- NM_001408442.1:c.665-437_665-431del
- NM_001408443.1:c.665-437_665-431del
- NM_001408444.1:c.665-437_665-431del
- NM_001408445.1:c.662-437_662-431del
- NM_001408446.1:c.662-437_662-431del
- NM_001408447.1:c.662-437_662-431del
- NM_001408448.1:c.662-437_662-431del
- NM_001408450.1:c.662-437_662-431del
- NM_001408451.1:c.653-437_653-431del
- NM_001408452.1:c.647-437_647-431del
- NM_001408453.1:c.647-437_647-431del
- NM_001408454.1:c.647-437_647-431del
- NM_001408455.1:c.647-437_647-431del
- NM_001408456.1:c.647-437_647-431del
- NM_001408457.1:c.647-437_647-431del
- NM_001408458.1:c.647-437_647-431del
- NM_001408459.1:c.647-437_647-431del
- NM_001408460.1:c.647-437_647-431del
- NM_001408461.1:c.647-437_647-431del
- NM_001408462.1:c.644-437_644-431del
- NM_001408463.1:c.644-437_644-431del
- NM_001408464.1:c.644-437_644-431del
- NM_001408465.1:c.644-437_644-431del
- NM_001408466.1:c.647-437_647-431del
- NM_001408467.1:c.647-437_647-431del
- NM_001408468.1:c.644-437_644-431del
- NM_001408469.1:c.647-437_647-431del
- NM_001408470.1:c.644-437_644-431del
- NM_001408472.1:c.788-437_788-431del
- NM_001408473.1:c.785-437_785-431del
- NM_001408474.1:c.587-437_587-431del
- NM_001408475.1:c.584-437_584-431del
- NM_001408476.1:c.587-437_587-431del
- NM_001408478.1:c.578-437_578-431del
- NM_001408479.1:c.578-437_578-431del
- NM_001408480.1:c.578-437_578-431del
- NM_001408481.1:c.578-437_578-431del
- NM_001408482.1:c.578-437_578-431del
- NM_001408483.1:c.578-437_578-431del
- NM_001408484.1:c.578-437_578-431del
- NM_001408485.1:c.578-437_578-431del
- NM_001408489.1:c.578-437_578-431del
- NM_001408490.1:c.575-437_575-431del
- NM_001408491.1:c.575-437_575-431del
- NM_001408492.1:c.578-437_578-431del
- NM_001408493.1:c.575-437_575-431del
- NM_001408494.1:c.548-437_548-431del
- NM_001408495.1:c.545-437_545-431del
- NM_001408496.1:c.524-437_524-431del
- NM_001408497.1:c.524-437_524-431del
- NM_001408498.1:c.524-437_524-431del
- NM_001408499.1:c.524-437_524-431del
- NM_001408500.1:c.524-437_524-431del
- NM_001408501.1:c.524-437_524-431del
- NM_001408502.1:c.455-437_455-431del
- NM_001408503.1:c.521-437_521-431del
- NM_001408504.1:c.521-437_521-431del
- NM_001408505.1:c.521-437_521-431del
- NM_001408506.1:c.461-437_461-431del
- NM_001408507.1:c.461-437_461-431del
- NM_001408508.1:c.452-437_452-431del
- NM_001408509.1:c.452-437_452-431del
- NM_001408510.1:c.407-437_407-431del
- NM_001408511.1:c.404-437_404-431del
- NM_001408512.1:c.284-437_284-431del
- NM_001408513.1:c.578-437_578-431del
- NM_001408514.1:c.578-437_578-431del
- NM_007294.4:c.4062_4068delMANE SELECT
- NM_007297.4:c.3921_3927del
- NM_007298.4:c.788-437_788-431del
- NM_007299.4:c.788-437_788-431del
- NM_007300.4:c.4062_4068del
- NP_001394500.1:p.Asn1283fs
- NP_001394510.1:p.Asn1354fs
- NP_001394511.1:p.Asn1354fs
- NP_001394512.1:p.Asn1354fs
- NP_001394514.1:p.Asn1354fs
- NP_001394516.1:p.Asn1353fs
- NP_001394519.1:p.Asn1353fs
- NP_001394520.1:p.Asn1353fs
- NP_001394522.1:p.Asn1354fs
- NP_001394523.1:p.Asn1354fs
- NP_001394525.1:p.Asn1354fs
- NP_001394526.1:p.Asn1354fs
- NP_001394527.1:p.Asn1354fs
- NP_001394531.1:p.Asn1354fs
- NP_001394532.1:p.Asn1354fs
- NP_001394534.1:p.Asn1354fs
- NP_001394539.1:p.Asn1353fs
- NP_001394540.1:p.Asn1353fs
- NP_001394541.1:p.Asn1353fs
- NP_001394542.1:p.Asn1353fs
- NP_001394543.1:p.Asn1353fs
- NP_001394544.1:p.Asn1353fs
- NP_001394545.1:p.Asn1354fs
- NP_001394546.1:p.Asn1354fs
- NP_001394547.1:p.Asn1354fs
- NP_001394548.1:p.Asn1354fs
- NP_001394549.1:p.Asn1354fs
- NP_001394550.1:p.Asn1354fs
- NP_001394551.1:p.Asn1354fs
- NP_001394552.1:p.Asn1354fs
- NP_001394553.1:p.Asn1354fs
- NP_001394554.1:p.Asn1354fs
- NP_001394555.1:p.Asn1354fs
- NP_001394556.1:p.Asn1353fs
- NP_001394557.1:p.Asn1353fs
- NP_001394558.1:p.Asn1353fs
- NP_001394559.1:p.Asn1353fs
- NP_001394560.1:p.Asn1353fs
- NP_001394561.1:p.Asn1353fs
- NP_001394562.1:p.Asn1353fs
- NP_001394563.1:p.Asn1353fs
- NP_001394564.1:p.Asn1353fs
- NP_001394565.1:p.Asn1353fs
- NP_001394566.1:p.Asn1353fs
- NP_001394567.1:p.Asn1353fs
- NP_001394568.1:p.Asn1354fs
- NP_001394569.1:p.Asn1354fs
- NP_001394570.1:p.Asn1354fs
- NP_001394571.1:p.Asn1354fs
- NP_001394573.1:p.Asn1353fs
- NP_001394574.1:p.Asn1353fs
- NP_001394575.1:p.Asn1351fs
- NP_001394576.1:p.Asn1351fs
- NP_001394577.1:p.Asn1313fs
- NP_001394578.1:p.Asn1312fs
- NP_001394581.1:p.Asn1354fs
- NP_001394582.1:p.Asn1328fs
- NP_001394583.1:p.Asn1328fs
- NP_001394584.1:p.Asn1328fs
- NP_001394585.1:p.Asn1328fs
- NP_001394586.1:p.Asn1328fs
- NP_001394587.1:p.Asn1328fs
- NP_001394588.1:p.Asn1327fs
- NP_001394589.1:p.Asn1327fs
- NP_001394590.1:p.Asn1327fs
- NP_001394591.1:p.Asn1327fs
- NP_001394592.1:p.Asn1328fs
- NP_001394593.1:p.Asn1313fs
- NP_001394594.1:p.Asn1313fs
- NP_001394595.1:p.Asn1313fs
- NP_001394596.1:p.Asn1313fs
- NP_001394597.1:p.Asn1313fs
- NP_001394598.1:p.Asn1313fs
- NP_001394599.1:p.Asn1312fs
- NP_001394600.1:p.Asn1312fs
- NP_001394601.1:p.Asn1312fs
- NP_001394602.1:p.Asn1312fs
- NP_001394603.1:p.Asn1313fs
- NP_001394604.1:p.Asn1313fs
- NP_001394605.1:p.Asn1313fs
- NP_001394606.1:p.Asn1313fs
- NP_001394607.1:p.Asn1313fs
- NP_001394608.1:p.Asn1313fs
- NP_001394609.1:p.Asn1313fs
- NP_001394610.1:p.Asn1313fs
- NP_001394611.1:p.Asn1313fs
- NP_001394612.1:p.Asn1313fs
- NP_001394613.1:p.Asn1354fs
- NP_001394614.1:p.Asn1312fs
- NP_001394615.1:p.Asn1312fs
- NP_001394616.1:p.Asn1312fs
- NP_001394617.1:p.Asn1312fs
- NP_001394618.1:p.Asn1312fs
- NP_001394619.1:p.Asn1312fs
- NP_001394620.1:p.Asn1312fs
- NP_001394621.1:p.Asn1307fs
- NP_001394623.1:p.Asn1307fs
- NP_001394624.1:p.Asn1307fs
- NP_001394625.1:p.Asn1307fs
- NP_001394626.1:p.Asn1307fs
- NP_001394627.1:p.Asn1307fs
- NP_001394653.1:p.Asn1307fs
- NP_001394654.1:p.Asn1307fs
- NP_001394655.1:p.Asn1307fs
- NP_001394656.1:p.Asn1307fs
- NP_001394657.1:p.Asn1307fs
- NP_001394658.1:p.Asn1307fs
- NP_001394659.1:p.Asn1307fs
- NP_001394660.1:p.Asn1307fs
- NP_001394661.1:p.Asn1307fs
- NP_001394662.1:p.Asn1307fs
- NP_001394663.1:p.Asn1307fs
- NP_001394664.1:p.Asn1307fs
- NP_001394665.1:p.Asn1307fs
- NP_001394666.1:p.Asn1307fs
- NP_001394667.1:p.Asn1307fs
- NP_001394668.1:p.Asn1307fs
- NP_001394669.1:p.Asn1306fs
- NP_001394670.1:p.Asn1306fs
- NP_001394671.1:p.Asn1306fs
- NP_001394672.1:p.Asn1306fs
- NP_001394673.1:p.Asn1306fs
- NP_001394674.1:p.Asn1306fs
- NP_001394675.1:p.Asn1306fs
- NP_001394676.1:p.Asn1306fs
- NP_001394677.1:p.Asn1306fs
- NP_001394678.1:p.Asn1306fs
- NP_001394679.1:p.Asn1307fs
- NP_001394680.1:p.Asn1307fs
- NP_001394681.1:p.Asn1307fs
- NP_001394767.1:p.Asn1306fs
- NP_001394768.1:p.Asn1306fs
- NP_001394770.1:p.Asn1306fs
- NP_001394771.1:p.Asn1306fs
- NP_001394772.1:p.Asn1306fs
- NP_001394773.1:p.Asn1306fs
- NP_001394774.1:p.Asn1306fs
- NP_001394775.1:p.Asn1306fs
- NP_001394776.1:p.Asn1306fs
- NP_001394777.1:p.Asn1306fs
- NP_001394778.1:p.Asn1306fs
- NP_001394779.1:p.Asn1307fs
- NP_001394780.1:p.Asn1307fs
- NP_001394781.1:p.Asn1307fs
- NP_001394782.1:p.Asn1283fs
- NP_001394783.1:p.Asn1354fs
- NP_001394787.1:p.Asn1354fs
- NP_001394788.1:p.Asn1354fs
- NP_001394789.1:p.Asn1353fs
- NP_001394790.1:p.Asn1353fs
- NP_001394791.1:p.Asn1287fs
- NP_001394792.1:p.Asn1313fs
- NP_001394803.1:p.Asn1286fs
- NP_001394804.1:p.Asn1286fs
- NP_001394808.1:p.Asn1284fs
- NP_001394810.1:p.Asn1284fs
- NP_001394811.1:p.Asn1284fs
- NP_001394813.1:p.Asn1284fs
- NP_001394814.1:p.Asn1284fs
- NP_001394815.1:p.Asn1284fs
- NP_001394816.1:p.Asn1284fs
- NP_001394818.1:p.Asn1284fs
- NP_001394823.1:p.Asn1283fs
- NP_001394824.1:p.Asn1283fs
- NP_001394825.1:p.Asn1283fs
- NP_001394826.1:p.Asn1283fs
- NP_001394827.1:p.Asn1283fs
- NP_001394828.1:p.Asn1283fs
- NP_001394829.1:p.Asn1284fs
- NP_001394831.1:p.Asn1284fs
- NP_001394833.1:p.Asn1284fs
- NP_001394835.1:p.Asn1284fs
- NP_001394836.1:p.Asn1284fs
- NP_001394837.1:p.Asn1284fs
- NP_001394838.1:p.Asn1284fs
- NP_001394839.1:p.Asn1284fs
- NP_001394844.1:p.Asn1283fs
- NP_001394845.1:p.Asn1283fs
- NP_001394846.1:p.Asn1283fs
- NP_001394847.1:p.Asn1283fs
- NP_001394848.1:p.Asn1313fs
- NP_001394849.1:p.Asn1266fs
- NP_001394850.1:p.Asn1266fs
- NP_001394851.1:p.Asn1266fs
- NP_001394852.1:p.Asn1266fs
- NP_001394853.1:p.Asn1266fs
- NP_001394854.1:p.Asn1266fs
- NP_001394855.1:p.Asn1266fs
- NP_001394856.1:p.Asn1266fs
- NP_001394857.1:p.Asn1266fs
- NP_001394858.1:p.Asn1266fs
- NP_001394859.1:p.Asn1265fs
- NP_001394860.1:p.Asn1265fs
- NP_001394861.1:p.Asn1265fs
- NP_001394862.1:p.Asn1266fs
- NP_001394863.1:p.Asn1265fs
- NP_001394864.1:p.Asn1266fs
- NP_001394865.1:p.Asn1265fs
- NP_001394866.1:p.Asn1313fs
- NP_001394867.1:p.Asn1313fs
- NP_001394868.1:p.Asn1313fs
- NP_001394869.1:p.Asn1312fs
- NP_001394870.1:p.Asn1312fs
- NP_001394871.1:p.Asn1307fs
- NP_001394872.1:p.Asn1306fs
- NP_001394873.1:p.Asn1307fs
- NP_001394874.1:p.Asn1307fs
- NP_001394875.1:p.Asn1243fs
- NP_001394876.1:p.Asn1243fs
- NP_001394877.1:p.Asn1243fs
- NP_001394878.1:p.Asn1243fs
- NP_001394879.1:p.Asn1243fs
- NP_001394880.1:p.Asn1243fs
- NP_001394881.1:p.Asn1243fs
- NP_001394882.1:p.Asn1243fs
- NP_001394883.1:p.Asn1242fs
- NP_001394884.1:p.Asn1242fs
- NP_001394885.1:p.Asn1242fs
- NP_001394886.1:p.Asn1243fs
- NP_001394887.1:p.Asn1242fs
- NP_001394888.1:p.Asn1227fs
- NP_001394889.1:p.Asn1227fs
- NP_001394891.1:p.Asn1226fs
- NP_001394892.1:p.Asn1227fs
- NP_001394893.1:p.Asn1306fs
- NP_001394894.1:p.Asn1186fs
- NP_001394895.1:p.Asn1058fs
- NP_001394896.1:p.Asn1058fs
- NP_001394897.1:p.Asn486fs
- NP_001394898.1:p.Asn486fs
- NP_009225.1:p.Asn1354Lysfs
- NP_009225.1:p.Asn1354fs
- NP_009228.2:p.Asn1307fs
- NP_009231.2:p.Asn1354fs
- LRG_292t1:c.4060_4066del
- LRG_292:g.126515_126521del
- LRG_292p1:p.Asn1354Lysfs
- NC_000017.10:g.41243480_41243486delTTGATTA
- NC_000017.10:g.41243482_41243488del
- NM_007294.3:c.4060_4066delAATAATC
- NM_007294.3:c.4062_4068delTAATCAA
- NR_027676.1:n.4196_4202delAATAATC
- p.Asn1354fs
This HGVS expression did not pass validation- Protein change:
- N1058fs
- Links:
- dbSNP: rs397509134
- NCBI 1000 Genomes Browser:
- rs397509134
- Molecular consequence:
- NM_001407571.1:c.3849_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407581.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407582.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407583.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407585.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407587.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407590.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407591.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407593.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407594.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407596.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407597.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407598.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407602.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407603.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407605.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407610.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407611.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407612.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407613.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407614.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407615.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407616.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407617.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407618.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407619.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407620.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407621.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407622.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407623.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407624.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407625.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407626.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407627.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407628.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407629.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407630.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407631.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407632.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407633.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407634.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407635.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407636.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407637.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407638.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407639.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407640.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407641.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407642.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407644.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407645.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407646.1:c.4053_4059del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407647.1:c.4053_4059del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407648.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407649.1:c.3936_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407652.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407653.1:c.3984_3990del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407654.1:c.3984_3990del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407655.1:c.3984_3990del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407656.1:c.3984_3990del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407657.1:c.3984_3990del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407658.1:c.3984_3990del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407659.1:c.3981_3987del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407660.1:c.3981_3987del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407661.1:c.3981_3987del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407662.1:c.3981_3987del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407663.1:c.3984_3990del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407664.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407665.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407666.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407667.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407668.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407669.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407670.1:c.3936_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407671.1:c.3936_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407672.1:c.3936_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407673.1:c.3936_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407674.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407675.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407676.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407677.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407678.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407679.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407680.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407681.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407682.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407683.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407684.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407685.1:c.3936_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407686.1:c.3936_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407687.1:c.3936_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407688.1:c.3936_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407689.1:c.3936_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407690.1:c.3936_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407691.1:c.3936_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407692.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407694.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407695.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407696.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407697.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407698.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407724.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407725.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407726.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407727.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407728.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407729.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407730.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407731.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407732.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407733.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407734.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407735.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407736.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407737.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407738.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407739.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407740.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407741.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407742.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407743.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407744.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407745.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407746.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407747.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407748.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407749.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407750.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407751.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407752.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407838.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407839.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407841.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407842.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407843.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407844.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407845.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407846.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407847.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407848.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407849.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407850.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407851.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407852.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407853.1:c.3849_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407854.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407858.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407859.1:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407860.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407861.1:c.4059_4065del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407862.1:c.3861_3867del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407863.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407874.1:c.3858_3864del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407875.1:c.3858_3864del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407879.1:c.3852_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407881.1:c.3852_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407882.1:c.3852_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407884.1:c.3852_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407885.1:c.3852_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407886.1:c.3852_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407887.1:c.3852_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407889.1:c.3852_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407894.1:c.3849_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407895.1:c.3849_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407896.1:c.3849_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407897.1:c.3849_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407898.1:c.3849_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407899.1:c.3849_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407900.1:c.3852_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407902.1:c.3852_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407904.1:c.3852_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407906.1:c.3852_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407907.1:c.3852_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407908.1:c.3852_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407909.1:c.3852_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407910.1:c.3852_3858del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407915.1:c.3849_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407916.1:c.3849_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407917.1:c.3849_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407918.1:c.3849_3855del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407919.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407920.1:c.3798_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407921.1:c.3798_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407922.1:c.3798_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407923.1:c.3798_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407924.1:c.3798_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407925.1:c.3798_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407926.1:c.3798_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407927.1:c.3798_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407928.1:c.3798_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407929.1:c.3798_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407930.1:c.3795_3801del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407931.1:c.3795_3801del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407932.1:c.3795_3801del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407933.1:c.3798_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407934.1:c.3795_3801del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407935.1:c.3798_3804del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407936.1:c.3795_3801del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407937.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407938.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407939.1:c.3939_3945del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407940.1:c.3936_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407941.1:c.3936_3942del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407942.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407943.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407944.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407945.1:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407946.1:c.3729_3735del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407947.1:c.3729_3735del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407948.1:c.3729_3735del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407949.1:c.3729_3735del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407950.1:c.3729_3735del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407951.1:c.3729_3735del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407952.1:c.3729_3735del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407953.1:c.3729_3735del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407954.1:c.3726_3732del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407955.1:c.3726_3732del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407956.1:c.3726_3732del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407957.1:c.3729_3735del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407958.1:c.3726_3732del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407959.1:c.3681_3687del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407960.1:c.3681_3687del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407962.1:c.3678_3684del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407963.1:c.3681_3687del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407964.1:c.3918_3924del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407965.1:c.3558_3564del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407966.1:c.3174_3180del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407967.1:c.3174_3180del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407968.1:c.1458_1464del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407969.1:c.1458_1464del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007294.4:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007297.4:c.3921_3927del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007300.4:c.4062_4068del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407970.1:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.785-437_785-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.785-437_785-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.785-437_785-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.785-437_785-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.785-437_785-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.785-437_785-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.785-437_785-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.785-437_785-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.785-437_785-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.785-437_785-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.785-437_785-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.785-437_785-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.785-437_785-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.785-437_785-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.791-446_791-440del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.785-437_785-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.779-437_779-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.710-437_710-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.647-437_647-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.710-437_710-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.710-437_710-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.707-437_707-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.710-437_710-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.710-437_710-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.707-437_707-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-437_671-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-437_671-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-437_671-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-437_668-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-437_671-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-437_671-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-437_668-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.665-437_665-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.665-437_665-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.665-437_665-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.665-437_665-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.665-437_665-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.665-437_665-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-437_668-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.662-437_662-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.662-437_662-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.662-437_662-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.662-437_662-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.665-437_665-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.665-437_665-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.665-437_665-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.665-437_665-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.665-437_665-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.665-437_665-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.665-437_665-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.665-437_665-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.665-437_665-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.662-437_662-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.662-437_662-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.662-437_662-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.662-437_662-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.662-437_662-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.653-437_653-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.647-437_647-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.647-437_647-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.647-437_647-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.647-437_647-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.647-437_647-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.647-437_647-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.647-437_647-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.647-437_647-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.647-437_647-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.647-437_647-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.644-437_644-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.644-437_644-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.644-437_644-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.644-437_644-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.647-437_647-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.647-437_647-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.644-437_644-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.647-437_647-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.644-437_644-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.785-437_785-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.587-437_587-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.584-437_584-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.587-437_587-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.578-437_578-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.578-437_578-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.578-437_578-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.578-437_578-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.578-437_578-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.578-437_578-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.578-437_578-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.578-437_578-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.578-437_578-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.575-437_575-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.575-437_575-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.578-437_578-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.575-437_575-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-437_548-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-437_545-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.524-437_524-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.524-437_524-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.524-437_524-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.524-437_524-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.524-437_524-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.524-437_524-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.455-437_455-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.521-437_521-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.521-437_521-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.521-437_521-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-437_461-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-437_461-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.452-437_452-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.452-437_452-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.407-437_407-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-437_404-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.284-437_284-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.578-437_578-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.578-437_578-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.788-437_788-431del - intron variant - [Sequence Ontology: SO:0001627]
- Observations:
- 1
Condition(s)
- Name:
- Breast and/or ovarian cancer
- Identifiers:
- MedGen: CN221562
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001451832 | CZECANCA consortium | no assertion criteria provided | Pathogenic (Jun 11, 2019) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
Slavic | germline | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.
Lhotova K, Stolarova L, Zemankova P, Vocka M, Janatova M, Borecka M, Cerna M, Jelinkova S, Kral J, Volkova Z, Urbanova M, Kleiblova P, Machackova E, Foretova L, Hazova J, Vasickova P, Lhota F, Koudova M, Cerna L, Tavandzis S, Indrakova J, Hruskova L, et al.
Cancers (Basel). 2020 Apr 13;12(4). doi:pii: E956. 10.3390/cancers12040956.
PubMed [citation]
- PMID:
- 32295079
- PMCID:
- PMC7226062
Details of each submission
From CZECANCA consortium, SCV001451832.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | Slavic | 1 | 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 | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided |
Last Updated: Nov 3, 2024