NM_007294.4(BRCA1):c.4068A>G (p.Gln1356=) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 16, 2023
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- 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:
- RCV004519385.1
Allele description [Variation Report for NM_007294.4(BRCA1):c.4068A>G (p.Gln1356=)]
NM_007294.4(BRCA1):c.4068A>G (p.Gln1356=)
- Genes:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene] - Variant type:
- single nucleotide variant
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.4068A>G (p.Gln1356=)
- HGVS:
- NC_000017.11:g.43091463T>C
- NG_005905.2:g.126521A>G
- NG_087068.1:g.445T>C
- NM_001407571.1:c.3855A>G
- NM_001407581.1:c.4068A>G
- NM_001407582.1:c.4068A>G
- NM_001407583.1:c.4068A>G
- NM_001407585.1:c.4068A>G
- NM_001407587.1:c.4065A>G
- NM_001407590.1:c.4065A>G
- NM_001407591.1:c.4065A>G
- NM_001407593.1:c.4068A>G
- NM_001407594.1:c.4068A>G
- NM_001407596.1:c.4068A>G
- NM_001407597.1:c.4068A>G
- NM_001407598.1:c.4068A>G
- NM_001407602.1:c.4068A>G
- NM_001407603.1:c.4068A>G
- NM_001407605.1:c.4068A>G
- NM_001407610.1:c.4065A>G
- NM_001407611.1:c.4065A>G
- NM_001407612.1:c.4065A>G
- NM_001407613.1:c.4065A>G
- NM_001407614.1:c.4065A>G
- NM_001407615.1:c.4065A>G
- NM_001407616.1:c.4068A>G
- NM_001407617.1:c.4068A>G
- NM_001407618.1:c.4068A>G
- NM_001407619.1:c.4068A>G
- NM_001407620.1:c.4068A>G
- NM_001407621.1:c.4068A>G
- NM_001407622.1:c.4068A>G
- NM_001407623.1:c.4068A>G
- NM_001407624.1:c.4068A>G
- NM_001407625.1:c.4068A>G
- NM_001407626.1:c.4068A>G
- NM_001407627.1:c.4065A>G
- NM_001407628.1:c.4065A>G
- NM_001407629.1:c.4065A>G
- NM_001407630.1:c.4065A>G
- NM_001407631.1:c.4065A>G
- NM_001407632.1:c.4065A>G
- NM_001407633.1:c.4065A>G
- NM_001407634.1:c.4065A>G
- NM_001407635.1:c.4065A>G
- NM_001407636.1:c.4065A>G
- NM_001407637.1:c.4065A>G
- NM_001407638.1:c.4065A>G
- NM_001407639.1:c.4068A>G
- NM_001407640.1:c.4068A>G
- NM_001407641.1:c.4068A>G
- NM_001407642.1:c.4068A>G
- NM_001407644.1:c.4065A>G
- NM_001407645.1:c.4065A>G
- NM_001407646.1:c.4059A>G
- NM_001407647.1:c.4059A>G
- NM_001407648.1:c.3945A>G
- NM_001407649.1:c.3942A>G
- NM_001407652.1:c.4068A>G
- NM_001407653.1:c.3990A>G
- NM_001407654.1:c.3990A>G
- NM_001407655.1:c.3990A>G
- NM_001407656.1:c.3990A>G
- NM_001407657.1:c.3990A>G
- NM_001407658.1:c.3990A>G
- NM_001407659.1:c.3987A>G
- NM_001407660.1:c.3987A>G
- NM_001407661.1:c.3987A>G
- NM_001407662.1:c.3987A>G
- NM_001407663.1:c.3990A>G
- NM_001407664.1:c.3945A>G
- NM_001407665.1:c.3945A>G
- NM_001407666.1:c.3945A>G
- NM_001407667.1:c.3945A>G
- NM_001407668.1:c.3945A>G
- NM_001407669.1:c.3945A>G
- NM_001407670.1:c.3942A>G
- NM_001407671.1:c.3942A>G
- NM_001407672.1:c.3942A>G
- NM_001407673.1:c.3942A>G
- NM_001407674.1:c.3945A>G
- NM_001407675.1:c.3945A>G
- NM_001407676.1:c.3945A>G
- NM_001407677.1:c.3945A>G
- NM_001407678.1:c.3945A>G
- NM_001407679.1:c.3945A>G
- NM_001407680.1:c.3945A>G
- NM_001407681.1:c.3945A>G
- NM_001407682.1:c.3945A>G
- NM_001407683.1:c.3945A>G
- NM_001407684.1:c.4068A>G
- NM_001407685.1:c.3942A>G
- NM_001407686.1:c.3942A>G
- NM_001407687.1:c.3942A>G
- NM_001407688.1:c.3942A>G
- NM_001407689.1:c.3942A>G
- NM_001407690.1:c.3942A>G
- NM_001407691.1:c.3942A>G
- NM_001407692.1:c.3927A>G
- NM_001407694.1:c.3927A>G
- NM_001407695.1:c.3927A>G
- NM_001407696.1:c.3927A>G
- NM_001407697.1:c.3927A>G
- NM_001407698.1:c.3927A>G
- NM_001407724.1:c.3927A>G
- NM_001407725.1:c.3927A>G
- NM_001407726.1:c.3927A>G
- NM_001407727.1:c.3927A>G
- NM_001407728.1:c.3927A>G
- NM_001407729.1:c.3927A>G
- NM_001407730.1:c.3927A>G
- NM_001407731.1:c.3927A>G
- NM_001407732.1:c.3927A>G
- NM_001407733.1:c.3927A>G
- NM_001407734.1:c.3927A>G
- NM_001407735.1:c.3927A>G
- NM_001407736.1:c.3927A>G
- NM_001407737.1:c.3927A>G
- NM_001407738.1:c.3927A>G
- NM_001407739.1:c.3927A>G
- NM_001407740.1:c.3924A>G
- NM_001407741.1:c.3924A>G
- NM_001407742.1:c.3924A>G
- NM_001407743.1:c.3924A>G
- NM_001407744.1:c.3924A>G
- NM_001407745.1:c.3924A>G
- NM_001407746.1:c.3924A>G
- NM_001407747.1:c.3924A>G
- NM_001407748.1:c.3924A>G
- NM_001407749.1:c.3924A>G
- NM_001407750.1:c.3927A>G
- NM_001407751.1:c.3927A>G
- NM_001407752.1:c.3927A>G
- NM_001407838.1:c.3924A>G
- NM_001407839.1:c.3924A>G
- NM_001407841.1:c.3924A>G
- NM_001407842.1:c.3924A>G
- NM_001407843.1:c.3924A>G
- NM_001407844.1:c.3924A>G
- NM_001407845.1:c.3924A>G
- NM_001407846.1:c.3924A>G
- NM_001407847.1:c.3924A>G
- NM_001407848.1:c.3924A>G
- NM_001407849.1:c.3924A>G
- NM_001407850.1:c.3927A>G
- NM_001407851.1:c.3927A>G
- NM_001407852.1:c.3927A>G
- NM_001407853.1:c.3855A>G
- NM_001407854.1:c.4068A>G
- NM_001407858.1:c.4068A>G
- NM_001407859.1:c.4068A>G
- NM_001407860.1:c.4065A>G
- NM_001407861.1:c.4065A>G
- NM_001407862.1:c.3867A>G
- NM_001407863.1:c.3945A>G
- NM_001407874.1:c.3864A>G
- NM_001407875.1:c.3864A>G
- NM_001407879.1:c.3858A>G
- NM_001407881.1:c.3858A>G
- NM_001407882.1:c.3858A>G
- NM_001407884.1:c.3858A>G
- NM_001407885.1:c.3858A>G
- NM_001407886.1:c.3858A>G
- NM_001407887.1:c.3858A>G
- NM_001407889.1:c.3858A>G
- NM_001407894.1:c.3855A>G
- NM_001407895.1:c.3855A>G
- NM_001407896.1:c.3855A>G
- NM_001407897.1:c.3855A>G
- NM_001407898.1:c.3855A>G
- NM_001407899.1:c.3855A>G
- NM_001407900.1:c.3858A>G
- NM_001407902.1:c.3858A>G
- NM_001407904.1:c.3858A>G
- NM_001407906.1:c.3858A>G
- NM_001407907.1:c.3858A>G
- NM_001407908.1:c.3858A>G
- NM_001407909.1:c.3858A>G
- NM_001407910.1:c.3858A>G
- NM_001407915.1:c.3855A>G
- NM_001407916.1:c.3855A>G
- NM_001407917.1:c.3855A>G
- NM_001407918.1:c.3855A>G
- NM_001407919.1:c.3945A>G
- NM_001407920.1:c.3804A>G
- NM_001407921.1:c.3804A>G
- NM_001407922.1:c.3804A>G
- NM_001407923.1:c.3804A>G
- NM_001407924.1:c.3804A>G
- NM_001407925.1:c.3804A>G
- NM_001407926.1:c.3804A>G
- NM_001407927.1:c.3804A>G
- NM_001407928.1:c.3804A>G
- NM_001407929.1:c.3804A>G
- NM_001407930.1:c.3801A>G
- NM_001407931.1:c.3801A>G
- NM_001407932.1:c.3801A>G
- NM_001407933.1:c.3804A>G
- NM_001407934.1:c.3801A>G
- NM_001407935.1:c.3804A>G
- NM_001407936.1:c.3801A>G
- NM_001407937.1:c.3945A>G
- NM_001407938.1:c.3945A>G
- NM_001407939.1:c.3945A>G
- NM_001407940.1:c.3942A>G
- NM_001407941.1:c.3942A>G
- NM_001407942.1:c.3927A>G
- NM_001407943.1:c.3924A>G
- NM_001407944.1:c.3927A>G
- NM_001407945.1:c.3927A>G
- NM_001407946.1:c.3735A>G
- NM_001407947.1:c.3735A>G
- NM_001407948.1:c.3735A>G
- NM_001407949.1:c.3735A>G
- NM_001407950.1:c.3735A>G
- NM_001407951.1:c.3735A>G
- NM_001407952.1:c.3735A>G
- NM_001407953.1:c.3735A>G
- NM_001407954.1:c.3732A>G
- NM_001407955.1:c.3732A>G
- NM_001407956.1:c.3732A>G
- NM_001407957.1:c.3735A>G
- NM_001407958.1:c.3732A>G
- NM_001407959.1:c.3687A>G
- NM_001407960.1:c.3687A>G
- NM_001407962.1:c.3684A>G
- NM_001407963.1:c.3687A>G
- NM_001407964.1:c.3924A>G
- NM_001407965.1:c.3564A>G
- NM_001407966.1:c.3180A>G
- NM_001407967.1:c.3180A>G
- NM_001407968.1:c.1464A>G
- NM_001407969.1:c.1464A>G
- NM_001407970.1:c.788-431A>G
- NM_001407971.1:c.788-431A>G
- NM_001407972.1:c.785-431A>G
- NM_001407973.1:c.788-431A>G
- NM_001407974.1:c.788-431A>G
- NM_001407975.1:c.788-431A>G
- NM_001407976.1:c.788-431A>G
- NM_001407977.1:c.788-431A>G
- NM_001407978.1:c.788-431A>G
- NM_001407979.1:c.788-431A>G
- NM_001407980.1:c.788-431A>G
- NM_001407981.1:c.788-431A>G
- NM_001407982.1:c.788-431A>G
- NM_001407983.1:c.788-431A>G
- NM_001407984.1:c.785-431A>G
- NM_001407985.1:c.785-431A>G
- NM_001407986.1:c.785-431A>G
- NM_001407990.1:c.788-431A>G
- NM_001407991.1:c.785-431A>G
- NM_001407992.1:c.785-431A>G
- NM_001407993.1:c.788-431A>G
- NM_001408392.1:c.785-431A>G
- NM_001408396.1:c.785-431A>G
- NM_001408397.1:c.785-431A>G
- NM_001408398.1:c.785-431A>G
- NM_001408399.1:c.785-431A>G
- NM_001408400.1:c.785-431A>G
- NM_001408401.1:c.785-431A>G
- NM_001408402.1:c.785-431A>G
- NM_001408403.1:c.788-431A>G
- NM_001408404.1:c.788-431A>G
- NM_001408406.1:c.791-440A>G
- NM_001408407.1:c.785-431A>G
- NM_001408408.1:c.779-431A>G
- NM_001408409.1:c.710-431A>G
- NM_001408410.1:c.647-431A>G
- NM_001408411.1:c.710-431A>G
- NM_001408412.1:c.710-431A>G
- NM_001408413.1:c.707-431A>G
- NM_001408414.1:c.710-431A>G
- NM_001408415.1:c.710-431A>G
- NM_001408416.1:c.707-431A>G
- NM_001408418.1:c.671-431A>G
- NM_001408419.1:c.671-431A>G
- NM_001408420.1:c.671-431A>G
- NM_001408421.1:c.668-431A>G
- NM_001408422.1:c.671-431A>G
- NM_001408423.1:c.671-431A>G
- NM_001408424.1:c.668-431A>G
- NM_001408425.1:c.665-431A>G
- NM_001408426.1:c.665-431A>G
- NM_001408427.1:c.665-431A>G
- NM_001408428.1:c.665-431A>G
- NM_001408429.1:c.665-431A>G
- NM_001408430.1:c.665-431A>G
- NM_001408431.1:c.668-431A>G
- NM_001408432.1:c.662-431A>G
- NM_001408433.1:c.662-431A>G
- NM_001408434.1:c.662-431A>G
- NM_001408435.1:c.662-431A>G
- NM_001408436.1:c.665-431A>G
- NM_001408437.1:c.665-431A>G
- NM_001408438.1:c.665-431A>G
- NM_001408439.1:c.665-431A>G
- NM_001408440.1:c.665-431A>G
- NM_001408441.1:c.665-431A>G
- NM_001408442.1:c.665-431A>G
- NM_001408443.1:c.665-431A>G
- NM_001408444.1:c.665-431A>G
- NM_001408445.1:c.662-431A>G
- NM_001408446.1:c.662-431A>G
- NM_001408447.1:c.662-431A>G
- NM_001408448.1:c.662-431A>G
- NM_001408450.1:c.662-431A>G
- NM_001408451.1:c.653-431A>G
- NM_001408452.1:c.647-431A>G
- NM_001408453.1:c.647-431A>G
- NM_001408454.1:c.647-431A>G
- NM_001408455.1:c.647-431A>G
- NM_001408456.1:c.647-431A>G
- NM_001408457.1:c.647-431A>G
- NM_001408458.1:c.647-431A>G
- NM_001408459.1:c.647-431A>G
- NM_001408460.1:c.647-431A>G
- NM_001408461.1:c.647-431A>G
- NM_001408462.1:c.644-431A>G
- NM_001408463.1:c.644-431A>G
- NM_001408464.1:c.644-431A>G
- NM_001408465.1:c.644-431A>G
- NM_001408466.1:c.647-431A>G
- NM_001408467.1:c.647-431A>G
- NM_001408468.1:c.644-431A>G
- NM_001408469.1:c.647-431A>G
- NM_001408470.1:c.644-431A>G
- NM_001408472.1:c.788-431A>G
- NM_001408473.1:c.785-431A>G
- NM_001408474.1:c.587-431A>G
- NM_001408475.1:c.584-431A>G
- NM_001408476.1:c.587-431A>G
- NM_001408478.1:c.578-431A>G
- NM_001408479.1:c.578-431A>G
- NM_001408480.1:c.578-431A>G
- NM_001408481.1:c.578-431A>G
- NM_001408482.1:c.578-431A>G
- NM_001408483.1:c.578-431A>G
- NM_001408484.1:c.578-431A>G
- NM_001408485.1:c.578-431A>G
- NM_001408489.1:c.578-431A>G
- NM_001408490.1:c.575-431A>G
- NM_001408491.1:c.575-431A>G
- NM_001408492.1:c.578-431A>G
- NM_001408493.1:c.575-431A>G
- NM_001408494.1:c.548-431A>G
- NM_001408495.1:c.545-431A>G
- NM_001408496.1:c.524-431A>G
- NM_001408497.1:c.524-431A>G
- NM_001408498.1:c.524-431A>G
- NM_001408499.1:c.524-431A>G
- NM_001408500.1:c.524-431A>G
- NM_001408501.1:c.524-431A>G
- NM_001408502.1:c.455-431A>G
- NM_001408503.1:c.521-431A>G
- NM_001408504.1:c.521-431A>G
- NM_001408505.1:c.521-431A>G
- NM_001408506.1:c.461-431A>G
- NM_001408507.1:c.461-431A>G
- NM_001408508.1:c.452-431A>G
- NM_001408509.1:c.452-431A>G
- NM_001408510.1:c.407-431A>G
- NM_001408511.1:c.404-431A>G
- NM_001408512.1:c.284-431A>G
- NM_001408513.1:c.578-431A>G
- NM_001408514.1:c.578-431A>G
- NM_007294.4:c.4068A>GMANE SELECT
- NM_007297.4:c.3927A>G
- NM_007298.4:c.788-431A>G
- NM_007299.4:c.788-431A>G
- NM_007300.4:c.4068A>G
- NP_001394500.1:p.Gln1285=
- NP_001394510.1:p.Gln1356=
- NP_001394511.1:p.Gln1356=
- NP_001394512.1:p.Gln1356=
- NP_001394514.1:p.Gln1356=
- NP_001394516.1:p.Gln1355=
- NP_001394519.1:p.Gln1355=
- NP_001394520.1:p.Gln1355=
- NP_001394522.1:p.Gln1356=
- NP_001394523.1:p.Gln1356=
- NP_001394525.1:p.Gln1356=
- NP_001394526.1:p.Gln1356=
- NP_001394527.1:p.Gln1356=
- NP_001394531.1:p.Gln1356=
- NP_001394532.1:p.Gln1356=
- NP_001394534.1:p.Gln1356=
- NP_001394539.1:p.Gln1355=
- NP_001394540.1:p.Gln1355=
- NP_001394541.1:p.Gln1355=
- NP_001394542.1:p.Gln1355=
- NP_001394543.1:p.Gln1355=
- NP_001394544.1:p.Gln1355=
- NP_001394545.1:p.Gln1356=
- NP_001394546.1:p.Gln1356=
- NP_001394547.1:p.Gln1356=
- NP_001394548.1:p.Gln1356=
- NP_001394549.1:p.Gln1356=
- NP_001394550.1:p.Gln1356=
- NP_001394551.1:p.Gln1356=
- NP_001394552.1:p.Gln1356=
- NP_001394553.1:p.Gln1356=
- NP_001394554.1:p.Gln1356=
- NP_001394555.1:p.Gln1356=
- NP_001394556.1:p.Gln1355=
- NP_001394557.1:p.Gln1355=
- NP_001394558.1:p.Gln1355=
- NP_001394559.1:p.Gln1355=
- NP_001394560.1:p.Gln1355=
- NP_001394561.1:p.Gln1355=
- NP_001394562.1:p.Gln1355=
- NP_001394563.1:p.Gln1355=
- NP_001394564.1:p.Gln1355=
- NP_001394565.1:p.Gln1355=
- NP_001394566.1:p.Gln1355=
- NP_001394567.1:p.Gln1355=
- NP_001394568.1:p.Gln1356=
- NP_001394569.1:p.Gln1356=
- NP_001394570.1:p.Gln1356=
- NP_001394571.1:p.Gln1356=
- NP_001394573.1:p.Gln1355=
- NP_001394574.1:p.Gln1355=
- NP_001394575.1:p.Gln1353=
- NP_001394576.1:p.Gln1353=
- NP_001394577.1:p.Gln1315=
- NP_001394578.1:p.Gln1314=
- NP_001394581.1:p.Gln1356=
- NP_001394582.1:p.Gln1330=
- NP_001394583.1:p.Gln1330=
- NP_001394584.1:p.Gln1330=
- NP_001394585.1:p.Gln1330=
- NP_001394586.1:p.Gln1330=
- NP_001394587.1:p.Gln1330=
- NP_001394588.1:p.Gln1329=
- NP_001394589.1:p.Gln1329=
- NP_001394590.1:p.Gln1329=
- NP_001394591.1:p.Gln1329=
- NP_001394592.1:p.Gln1330=
- NP_001394593.1:p.Gln1315=
- NP_001394594.1:p.Gln1315=
- NP_001394595.1:p.Gln1315=
- NP_001394596.1:p.Gln1315=
- NP_001394597.1:p.Gln1315=
- NP_001394598.1:p.Gln1315=
- NP_001394599.1:p.Gln1314=
- NP_001394600.1:p.Gln1314=
- NP_001394601.1:p.Gln1314=
- NP_001394602.1:p.Gln1314=
- NP_001394603.1:p.Gln1315=
- NP_001394604.1:p.Gln1315=
- NP_001394605.1:p.Gln1315=
- NP_001394606.1:p.Gln1315=
- NP_001394607.1:p.Gln1315=
- NP_001394608.1:p.Gln1315=
- NP_001394609.1:p.Gln1315=
- NP_001394610.1:p.Gln1315=
- NP_001394611.1:p.Gln1315=
- NP_001394612.1:p.Gln1315=
- NP_001394613.1:p.Gln1356=
- NP_001394614.1:p.Gln1314=
- NP_001394615.1:p.Gln1314=
- NP_001394616.1:p.Gln1314=
- NP_001394617.1:p.Gln1314=
- NP_001394618.1:p.Gln1314=
- NP_001394619.1:p.Gln1314=
- NP_001394620.1:p.Gln1314=
- NP_001394621.1:p.Gln1309=
- NP_001394623.1:p.Gln1309=
- NP_001394624.1:p.Gln1309=
- NP_001394625.1:p.Gln1309=
- NP_001394626.1:p.Gln1309=
- NP_001394627.1:p.Gln1309=
- NP_001394653.1:p.Gln1309=
- NP_001394654.1:p.Gln1309=
- NP_001394655.1:p.Gln1309=
- NP_001394656.1:p.Gln1309=
- NP_001394657.1:p.Gln1309=
- NP_001394658.1:p.Gln1309=
- NP_001394659.1:p.Gln1309=
- NP_001394660.1:p.Gln1309=
- NP_001394661.1:p.Gln1309=
- NP_001394662.1:p.Gln1309=
- NP_001394663.1:p.Gln1309=
- NP_001394664.1:p.Gln1309=
- NP_001394665.1:p.Gln1309=
- NP_001394666.1:p.Gln1309=
- NP_001394667.1:p.Gln1309=
- NP_001394668.1:p.Gln1309=
- NP_001394669.1:p.Gln1308=
- NP_001394670.1:p.Gln1308=
- NP_001394671.1:p.Gln1308=
- NP_001394672.1:p.Gln1308=
- NP_001394673.1:p.Gln1308=
- NP_001394674.1:p.Gln1308=
- NP_001394675.1:p.Gln1308=
- NP_001394676.1:p.Gln1308=
- NP_001394677.1:p.Gln1308=
- NP_001394678.1:p.Gln1308=
- NP_001394679.1:p.Gln1309=
- NP_001394680.1:p.Gln1309=
- NP_001394681.1:p.Gln1309=
- NP_001394767.1:p.Gln1308=
- NP_001394768.1:p.Gln1308=
- NP_001394770.1:p.Gln1308=
- NP_001394771.1:p.Gln1308=
- NP_001394772.1:p.Gln1308=
- NP_001394773.1:p.Gln1308=
- NP_001394774.1:p.Gln1308=
- NP_001394775.1:p.Gln1308=
- NP_001394776.1:p.Gln1308=
- NP_001394777.1:p.Gln1308=
- NP_001394778.1:p.Gln1308=
- NP_001394779.1:p.Gln1309=
- NP_001394780.1:p.Gln1309=
- NP_001394781.1:p.Gln1309=
- NP_001394782.1:p.Gln1285=
- NP_001394783.1:p.Gln1356=
- NP_001394787.1:p.Gln1356=
- NP_001394788.1:p.Gln1356=
- NP_001394789.1:p.Gln1355=
- NP_001394790.1:p.Gln1355=
- NP_001394791.1:p.Gln1289=
- NP_001394792.1:p.Gln1315=
- NP_001394803.1:p.Gln1288=
- NP_001394804.1:p.Gln1288=
- NP_001394808.1:p.Gln1286=
- NP_001394810.1:p.Gln1286=
- NP_001394811.1:p.Gln1286=
- NP_001394813.1:p.Gln1286=
- NP_001394814.1:p.Gln1286=
- NP_001394815.1:p.Gln1286=
- NP_001394816.1:p.Gln1286=
- NP_001394818.1:p.Gln1286=
- NP_001394823.1:p.Gln1285=
- NP_001394824.1:p.Gln1285=
- NP_001394825.1:p.Gln1285=
- NP_001394826.1:p.Gln1285=
- NP_001394827.1:p.Gln1285=
- NP_001394828.1:p.Gln1285=
- NP_001394829.1:p.Gln1286=
- NP_001394831.1:p.Gln1286=
- NP_001394833.1:p.Gln1286=
- NP_001394835.1:p.Gln1286=
- NP_001394836.1:p.Gln1286=
- NP_001394837.1:p.Gln1286=
- NP_001394838.1:p.Gln1286=
- NP_001394839.1:p.Gln1286=
- NP_001394844.1:p.Gln1285=
- NP_001394845.1:p.Gln1285=
- NP_001394846.1:p.Gln1285=
- NP_001394847.1:p.Gln1285=
- NP_001394848.1:p.Gln1315=
- NP_001394849.1:p.Gln1268=
- NP_001394850.1:p.Gln1268=
- NP_001394851.1:p.Gln1268=
- NP_001394852.1:p.Gln1268=
- NP_001394853.1:p.Gln1268=
- NP_001394854.1:p.Gln1268=
- NP_001394855.1:p.Gln1268=
- NP_001394856.1:p.Gln1268=
- NP_001394857.1:p.Gln1268=
- NP_001394858.1:p.Gln1268=
- NP_001394859.1:p.Gln1267=
- NP_001394860.1:p.Gln1267=
- NP_001394861.1:p.Gln1267=
- NP_001394862.1:p.Gln1268=
- NP_001394863.1:p.Gln1267=
- NP_001394864.1:p.Gln1268=
- NP_001394865.1:p.Gln1267=
- NP_001394866.1:p.Gln1315=
- NP_001394867.1:p.Gln1315=
- NP_001394868.1:p.Gln1315=
- NP_001394869.1:p.Gln1314=
- NP_001394870.1:p.Gln1314=
- NP_001394871.1:p.Gln1309=
- NP_001394872.1:p.Gln1308=
- NP_001394873.1:p.Gln1309=
- NP_001394874.1:p.Gln1309=
- NP_001394875.1:p.Gln1245=
- NP_001394876.1:p.Gln1245=
- NP_001394877.1:p.Gln1245=
- NP_001394878.1:p.Gln1245=
- NP_001394879.1:p.Gln1245=
- NP_001394880.1:p.Gln1245=
- NP_001394881.1:p.Gln1245=
- NP_001394882.1:p.Gln1245=
- NP_001394883.1:p.Gln1244=
- NP_001394884.1:p.Gln1244=
- NP_001394885.1:p.Gln1244=
- NP_001394886.1:p.Gln1245=
- NP_001394887.1:p.Gln1244=
- NP_001394888.1:p.Gln1229=
- NP_001394889.1:p.Gln1229=
- NP_001394891.1:p.Gln1228=
- NP_001394892.1:p.Gln1229=
- NP_001394893.1:p.Gln1308=
- NP_001394894.1:p.Gln1188=
- NP_001394895.1:p.Gln1060=
- NP_001394896.1:p.Gln1060=
- NP_001394897.1:p.Gln488=
- NP_001394898.1:p.Gln488=
- NP_009225.1:p.Gln1356=
- NP_009225.1:p.Gln1356=
- NP_009228.2:p.Gln1309=
- NP_009231.2:p.Gln1356=
- LRG_292t1:c.4068A>G
- LRG_292:g.126521A>G
- LRG_292p1:p.Gln1356=
- NC_000017.10:g.41243480T>C
- NM_007294.3:c.4068A>G
- NR_027676.2:n.4245A>G
This HGVS expression did not pass validation- Molecular consequence:
- NM_001407970.1:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.785-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.785-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.785-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.785-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.785-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.785-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.785-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.785-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.785-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.785-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.785-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.785-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.785-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.785-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.791-440A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.785-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.779-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.710-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.647-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.710-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.710-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.707-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.710-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.710-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.707-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.665-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.665-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.665-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.665-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.665-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.665-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.662-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.662-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.662-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.662-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.665-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.665-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.665-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.665-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.665-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.665-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.665-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.665-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.665-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.662-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.662-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.662-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.662-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.662-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.653-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.647-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.647-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.647-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.647-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.647-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.647-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.647-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.647-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.647-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.647-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.644-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.644-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.644-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.644-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.647-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.647-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.644-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.647-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.644-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.785-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.587-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.584-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.587-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.578-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.578-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.578-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.578-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.578-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.578-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.578-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.578-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.578-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.575-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.575-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.578-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.575-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.524-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.524-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.524-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.524-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.524-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.524-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.455-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.521-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.521-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.521-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.452-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.452-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.407-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.284-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.578-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.578-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.788-431A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.3855A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407581.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407582.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407583.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407585.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407587.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407590.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407591.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407593.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407594.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407596.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407597.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407598.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407602.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407603.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407605.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407610.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407611.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407612.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407613.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407614.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407615.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407616.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407617.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407618.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407619.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407620.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407621.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407622.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407623.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407624.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407625.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407626.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407627.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407628.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407629.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407630.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407631.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407632.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407633.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407634.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407635.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407636.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407637.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407638.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407639.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407640.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407641.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407642.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407644.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407645.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407646.1:c.4059A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407647.1:c.4059A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407648.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407649.1:c.3942A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407652.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407653.1:c.3990A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407654.1:c.3990A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407655.1:c.3990A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407656.1:c.3990A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407657.1:c.3990A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407658.1:c.3990A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407659.1:c.3987A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407660.1:c.3987A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407661.1:c.3987A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407662.1:c.3987A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407663.1:c.3990A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407664.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407665.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407666.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407667.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407668.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407669.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407670.1:c.3942A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407671.1:c.3942A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407672.1:c.3942A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407673.1:c.3942A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407674.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407675.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407676.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407677.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407678.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407679.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407680.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407681.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407682.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407683.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407684.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407685.1:c.3942A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407686.1:c.3942A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407687.1:c.3942A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407688.1:c.3942A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407689.1:c.3942A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407690.1:c.3942A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407691.1:c.3942A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407692.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407694.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407695.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407696.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407697.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407698.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407724.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407725.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407726.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407727.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407728.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407729.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407730.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407731.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407732.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407733.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407734.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407735.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407736.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407737.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407738.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407739.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407740.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407741.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407742.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407743.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407744.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407745.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407746.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407747.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407748.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407749.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407750.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407751.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407752.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407838.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407839.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407841.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407842.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407843.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407844.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407845.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407846.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407847.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407848.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407849.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407850.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407851.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407852.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407853.1:c.3855A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407854.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407858.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407859.1:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407860.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407861.1:c.4065A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407862.1:c.3867A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407863.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407874.1:c.3864A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407875.1:c.3864A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407879.1:c.3858A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407881.1:c.3858A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407882.1:c.3858A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407884.1:c.3858A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407885.1:c.3858A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407886.1:c.3858A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407887.1:c.3858A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407889.1:c.3858A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407894.1:c.3855A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407895.1:c.3855A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407896.1:c.3855A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407897.1:c.3855A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407898.1:c.3855A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407899.1:c.3855A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407900.1:c.3858A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407902.1:c.3858A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407904.1:c.3858A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407906.1:c.3858A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407907.1:c.3858A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407908.1:c.3858A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407909.1:c.3858A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407910.1:c.3858A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407915.1:c.3855A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407916.1:c.3855A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407917.1:c.3855A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407918.1:c.3855A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407919.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407920.1:c.3804A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407921.1:c.3804A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407922.1:c.3804A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407923.1:c.3804A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407924.1:c.3804A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407925.1:c.3804A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407926.1:c.3804A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407927.1:c.3804A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407928.1:c.3804A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407929.1:c.3804A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407930.1:c.3801A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407931.1:c.3801A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407932.1:c.3801A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407933.1:c.3804A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407934.1:c.3801A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407935.1:c.3804A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407936.1:c.3801A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407937.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407938.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407939.1:c.3945A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407940.1:c.3942A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407941.1:c.3942A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407942.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407943.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407944.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407945.1:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407946.1:c.3735A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407947.1:c.3735A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407948.1:c.3735A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407949.1:c.3735A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407950.1:c.3735A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407951.1:c.3735A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407952.1:c.3735A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407953.1:c.3735A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407954.1:c.3732A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407955.1:c.3732A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407956.1:c.3732A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407957.1:c.3735A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407958.1:c.3732A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407959.1:c.3687A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407960.1:c.3687A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407962.1:c.3684A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407963.1:c.3687A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407964.1:c.3924A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407965.1:c.3564A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407966.1:c.3180A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407967.1:c.3180A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407968.1:c.1464A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407969.1:c.1464A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007294.4:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007297.4:c.3927A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007300.4:c.4068A>G - synonymous variant - [Sequence Ontology: SO:0001819]
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV005026049 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Nov 16, 2023) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Ambry Genetics, SCV005026049.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The c.4068A>G variant (also known as p.Q1356Q), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 4068. This nucleotide substitution does not change the glutamine at codon 1356. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive; and direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
# | 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: May 7, 2024