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NM_007294.4(BRCA1):c.4186-2308G>A AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 1, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002258764.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.4186-2308G>A]

NM_007294.4(BRCA1):c.4186-2308G>A

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.4186-2308G>A
HGVS:
  • NC_000017.11:g.43084883C>T
  • NG_005905.2:g.133101G>A
  • NM_001407571.1:c.3973-2308G>A
  • NM_001407581.1:c.4186-2308G>A
  • NM_001407582.1:c.4186-2308G>A
  • NM_001407583.1:c.4186-2308G>A
  • NM_001407585.1:c.4186-2308G>A
  • NM_001407587.1:c.4183-2308G>A
  • NM_001407590.1:c.4183-2308G>A
  • NM_001407591.1:c.4183-2308G>A
  • NM_001407593.1:c.4186-2308G>A
  • NM_001407594.1:c.4186-2308G>A
  • NM_001407596.1:c.4186-2308G>A
  • NM_001407597.1:c.4186-2308G>A
  • NM_001407598.1:c.4186-2308G>A
  • NM_001407602.1:c.4186-2308G>A
  • NM_001407603.1:c.4186-2308G>A
  • NM_001407605.1:c.4186-2308G>A
  • NM_001407610.1:c.4183-2308G>A
  • NM_001407611.1:c.4183-2308G>A
  • NM_001407612.1:c.4183-2308G>A
  • NM_001407613.1:c.4183-2308G>A
  • NM_001407614.1:c.4183-2308G>A
  • NM_001407615.1:c.4183-2308G>A
  • NM_001407616.1:c.4186-2308G>A
  • NM_001407617.1:c.4186-2308G>A
  • NM_001407618.1:c.4186-2308G>A
  • NM_001407619.1:c.4186-2308G>A
  • NM_001407620.1:c.4186-2308G>A
  • NM_001407621.1:c.4186-2308G>A
  • NM_001407622.1:c.4186-2308G>A
  • NM_001407623.1:c.4186-2308G>A
  • NM_001407624.1:c.4186-2311G>A
  • NM_001407625.1:c.4186-2311G>A
  • NM_001407626.1:c.4186-2311G>A
  • NM_001407627.1:c.4183-2311G>A
  • NM_001407628.1:c.4183-2311G>A
  • NM_001407629.1:c.4183-2311G>A
  • NM_001407630.1:c.4183-2311G>A
  • NM_001407631.1:c.4183-2311G>A
  • NM_001407632.1:c.4183-2311G>A
  • NM_001407633.1:c.4183-2308G>A
  • NM_001407634.1:c.4183-2308G>A
  • NM_001407635.1:c.4183-2308G>A
  • NM_001407636.1:c.4183-2308G>A
  • NM_001407637.1:c.4183-2308G>A
  • NM_001407638.1:c.4183-2308G>A
  • NM_001407639.1:c.4186-2311G>A
  • NM_001407640.1:c.4186-2311G>A
  • NM_001407641.1:c.4186-2311G>A
  • NM_001407642.1:c.4186-2311G>A
  • NM_001407644.1:c.4183-2311G>A
  • NM_001407645.1:c.4183-2311G>A
  • NM_001407646.1:c.4177-2311G>A
  • NM_001407647.1:c.4177-2311G>A
  • NM_001407648.1:c.4063-2308G>A
  • NM_001407649.1:c.4060-2308G>A
  • NM_001407652.1:c.4186-2308G>A
  • NM_001407653.1:c.4108-2308G>A
  • NM_001407654.1:c.4108-2308G>A
  • NM_001407655.1:c.4108-2308G>A
  • NM_001407656.1:c.4108-2311G>A
  • NM_001407657.1:c.4108-2308G>A
  • NM_001407658.1:c.4108-2308G>A
  • NM_001407659.1:c.4105-2311G>A
  • NM_001407660.1:c.4105-2311G>A
  • NM_001407661.1:c.4105-2308G>A
  • NM_001407662.1:c.4105-2308G>A
  • NM_001407663.1:c.4108-2311G>A
  • NM_001407664.1:c.4063-2308G>A
  • NM_001407665.1:c.4063-2308G>A
  • NM_001407666.1:c.4063-2308G>A
  • NM_001407667.1:c.4063-2308G>A
  • NM_001407668.1:c.4063-2308G>A
  • NM_001407669.1:c.4063-2308G>A
  • NM_001407670.1:c.4060-2308G>A
  • NM_001407671.1:c.4060-2308G>A
  • NM_001407672.1:c.4060-2308G>A
  • NM_001407673.1:c.4060-2308G>A
  • NM_001407674.1:c.4063-2311G>A
  • NM_001407675.1:c.4063-2311G>A
  • NM_001407676.1:c.4063-2311G>A
  • NM_001407677.1:c.4063-2308G>A
  • NM_001407678.1:c.4063-2308G>A
  • NM_001407679.1:c.4063-2308G>A
  • NM_001407680.1:c.4063-2308G>A
  • NM_001407681.1:c.4063-2311G>A
  • NM_001407682.1:c.4063-2311G>A
  • NM_001407683.1:c.4063-2311G>A
  • NM_001407684.1:c.4186-2308G>A
  • NM_001407685.1:c.4060-2311G>A
  • NM_001407686.1:c.4060-2311G>A
  • NM_001407687.1:c.4060-2311G>A
  • NM_001407688.1:c.4060-2308G>A
  • NM_001407689.1:c.4060-2308G>A
  • NM_001407690.1:c.4060-2311G>A
  • NM_001407691.1:c.4060-2311G>A
  • NM_001407692.1:c.4045-2308G>A
  • NM_001407694.1:c.4045-2308G>A
  • NM_001407695.1:c.4045-2308G>A
  • NM_001407696.1:c.4045-2308G>A
  • NM_001407697.1:c.4045-2308G>A
  • NM_001407698.1:c.4045-2308G>A
  • NM_001407724.1:c.4045-2308G>A
  • NM_001407725.1:c.4045-2308G>A
  • NM_001407726.1:c.4045-2308G>A
  • NM_001407727.1:c.4045-2308G>A
  • NM_001407728.1:c.4045-2308G>A
  • NM_001407729.1:c.4045-2308G>A
  • NM_001407730.1:c.4045-2308G>A
  • NM_001407731.1:c.4045-2308G>A
  • NM_001407732.1:c.4045-2308G>A
  • NM_001407733.1:c.4045-2308G>A
  • NM_001407734.1:c.4045-2308G>A
  • NM_001407735.1:c.4045-2308G>A
  • NM_001407736.1:c.4045-2308G>A
  • NM_001407737.1:c.4045-2308G>A
  • NM_001407738.1:c.4045-2308G>A
  • NM_001407739.1:c.4045-2308G>A
  • NM_001407740.1:c.4042-2308G>A
  • NM_001407741.1:c.4042-2308G>A
  • NM_001407742.1:c.4042-2308G>A
  • NM_001407743.1:c.4042-2308G>A
  • NM_001407744.1:c.4042-2308G>A
  • NM_001407745.1:c.4042-2308G>A
  • NM_001407746.1:c.4042-2308G>A
  • NM_001407747.1:c.4042-2308G>A
  • NM_001407748.1:c.4042-2308G>A
  • NM_001407749.1:c.4042-2308G>A
  • NM_001407750.1:c.4045-2311G>A
  • NM_001407751.1:c.4045-2311G>A
  • NM_001407752.1:c.4045-2311G>A
  • NM_001407838.1:c.4042-2308G>A
  • NM_001407839.1:c.4042-2308G>A
  • NM_001407841.1:c.4042-2308G>A
  • NM_001407842.1:c.4042-2308G>A
  • NM_001407843.1:c.4042-2308G>A
  • NM_001407844.1:c.4042-2308G>A
  • NM_001407845.1:c.4042-2308G>A
  • NM_001407846.1:c.4042-2308G>A
  • NM_001407847.1:c.4042-2311G>A
  • NM_001407848.1:c.4042-2311G>A
  • NM_001407849.1:c.4042-2311G>A
  • NM_001407850.1:c.4045-2311G>A
  • NM_001407851.1:c.4045-2311G>A
  • NM_001407852.1:c.4045-2311G>A
  • NM_001407853.1:c.3973-2308G>A
  • NM_001407854.1:c.4186-2308G>A
  • NM_001407858.1:c.4186-2308G>A
  • NM_001407859.1:c.4186-2308G>A
  • NM_001407860.1:c.4183-2308G>A
  • NM_001407861.1:c.4183-2308G>A
  • NM_001407862.1:c.3985-2308G>A
  • NM_001407863.1:c.4063-2308G>A
  • NM_001407874.1:c.3982-2308G>A
  • NM_001407875.1:c.3982-2308G>A
  • NM_001407879.1:c.3976-2308G>A
  • NM_001407881.1:c.3976-2308G>A
  • NM_001407882.1:c.3976-2308G>A
  • NM_001407884.1:c.3976-2308G>A
  • NM_001407885.1:c.3976-2308G>A
  • NM_001407886.1:c.3976-2308G>A
  • NM_001407887.1:c.3976-2308G>A
  • NM_001407889.1:c.3976-2308G>A
  • NM_001407894.1:c.3973-2308G>A
  • NM_001407895.1:c.3973-2308G>A
  • NM_001407896.1:c.3973-2308G>A
  • NM_001407897.1:c.3973-2308G>A
  • NM_001407898.1:c.3973-2308G>A
  • NM_001407899.1:c.3973-2308G>A
  • NM_001407900.1:c.3976-2308G>A
  • NM_001407902.1:c.3976-2308G>A
  • NM_001407904.1:c.3976-2308G>A
  • NM_001407906.1:c.3976-2308G>A
  • NM_001407907.1:c.3976-2311G>A
  • NM_001407908.1:c.3976-2311G>A
  • NM_001407909.1:c.3976-2311G>A
  • NM_001407910.1:c.3976-2311G>A
  • NM_001407915.1:c.3973-2311G>A
  • NM_001407916.1:c.3973-2308G>A
  • NM_001407917.1:c.3973-2308G>A
  • NM_001407918.1:c.3973-2308G>A
  • NM_001407919.1:c.4063-2308G>A
  • NM_001407920.1:c.3922-2308G>A
  • NM_001407921.1:c.3922-2308G>A
  • NM_001407922.1:c.3922-2308G>A
  • NM_001407923.1:c.3922-2308G>A
  • NM_001407924.1:c.3922-2308G>A
  • NM_001407925.1:c.3922-2308G>A
  • NM_001407926.1:c.3922-2308G>A
  • NM_001407927.1:c.3922-2308G>A
  • NM_001407928.1:c.3922-2308G>A
  • NM_001407929.1:c.3922-2308G>A
  • NM_001407930.1:c.3919-2308G>A
  • NM_001407931.1:c.3919-2308G>A
  • NM_001407932.1:c.3919-2308G>A
  • NM_001407933.1:c.3922-2311G>A
  • NM_001407934.1:c.3919-2311G>A
  • NM_001407935.1:c.3922-2311G>A
  • NM_001407936.1:c.3919-2308G>A
  • NM_001407937.1:c.4063-2308G>A
  • NM_001407938.1:c.4063-2308G>A
  • NM_001407939.1:c.4063-2308G>A
  • NM_001407940.1:c.4060-2308G>A
  • NM_001407941.1:c.4060-2308G>A
  • NM_001407942.1:c.4045-2308G>A
  • NM_001407943.1:c.4042-2308G>A
  • NM_001407944.1:c.4045-2308G>A
  • NM_001407945.1:c.4045-2308G>A
  • NM_001407946.1:c.3853-2308G>A
  • NM_001407947.1:c.3853-2308G>A
  • NM_001407948.1:c.3853-2308G>A
  • NM_001407949.1:c.3853-2308G>A
  • NM_001407950.1:c.3853-2308G>A
  • NM_001407951.1:c.3853-2308G>A
  • NM_001407952.1:c.3853-2311G>A
  • NM_001407953.1:c.3853-2311G>A
  • NM_001407954.1:c.3850-2308G>A
  • NM_001407955.1:c.3850-2308G>A
  • NM_001407956.1:c.3850-2311G>A
  • NM_001407957.1:c.3853-2311G>A
  • NM_001407958.1:c.3850-2308G>A
  • NM_001407959.1:c.3805-2308G>A
  • NM_001407960.1:c.3805-2308G>A
  • NM_001407962.1:c.3802-2308G>A
  • NM_001407963.1:c.3805-2311G>A
  • NM_001407964.1:c.4042-2308G>A
  • NM_001407965.1:c.3682-2311G>A
  • NM_001407966.1:c.3298-2308G>A
  • NM_001407967.1:c.3298-2308G>A
  • NM_001407968.1:c.1582-2308G>A
  • NM_001407969.1:c.1582-2311G>A
  • NM_001407970.1:c.877-2308G>A
  • NM_001407971.1:c.877-2308G>A
  • NM_001407972.1:c.874-2308G>A
  • NM_001407973.1:c.877-2308G>A
  • NM_001407974.1:c.877-2308G>A
  • NM_001407975.1:c.877-2308G>A
  • NM_001407976.1:c.877-2308G>A
  • NM_001407977.1:c.877-2308G>A
  • NM_001407978.1:c.877-2308G>A
  • NM_001407979.1:c.877-2311G>A
  • NM_001407980.1:c.877-2311G>A
  • NM_001407981.1:c.877-2311G>A
  • NM_001407982.1:c.877-2311G>A
  • NM_001407983.1:c.877-2311G>A
  • NM_001407984.1:c.874-2308G>A
  • NM_001407985.1:c.874-2308G>A
  • NM_001407986.1:c.874-2308G>A
  • NM_001407990.1:c.877-2311G>A
  • NM_001407991.1:c.874-2308G>A
  • NM_001407992.1:c.874-2308G>A
  • NM_001407993.1:c.877-2308G>A
  • NM_001408392.1:c.874-2308G>A
  • NM_001408396.1:c.874-2308G>A
  • NM_001408397.1:c.874-2308G>A
  • NM_001408398.1:c.874-2308G>A
  • NM_001408399.1:c.874-2308G>A
  • NM_001408400.1:c.874-2311G>A
  • NM_001408401.1:c.874-2311G>A
  • NM_001408402.1:c.874-2311G>A
  • NM_001408403.1:c.877-2311G>A
  • NM_001408404.1:c.877-2311G>A
  • NM_001408406.1:c.871-2311G>A
  • NM_001408407.1:c.874-2311G>A
  • NM_001408408.1:c.868-2308G>A
  • NM_001408409.1:c.799-2308G>A
  • NM_001408410.1:c.736-2308G>A
  • NM_001408411.1:c.799-2308G>A
  • NM_001408412.1:c.799-2308G>A
  • NM_001408413.1:c.796-2308G>A
  • NM_001408414.1:c.799-2308G>A
  • NM_001408415.1:c.799-2308G>A
  • NM_001408416.1:c.796-2308G>A
  • NM_001408418.1:c.760-2308G>A
  • NM_001408419.1:c.760-2308G>A
  • NM_001408420.1:c.760-2308G>A
  • NM_001408421.1:c.757-2308G>A
  • NM_001408422.1:c.760-2308G>A
  • NM_001408423.1:c.760-2308G>A
  • NM_001408424.1:c.757-2308G>A
  • NM_001408425.1:c.754-2308G>A
  • NM_001408426.1:c.754-2308G>A
  • NM_001408427.1:c.754-2308G>A
  • NM_001408428.1:c.754-2308G>A
  • NM_001408429.1:c.754-2308G>A
  • NM_001408430.1:c.754-2308G>A
  • NM_001408431.1:c.757-2308G>A
  • NM_001408432.1:c.751-2308G>A
  • NM_001408433.1:c.751-2308G>A
  • NM_001408434.1:c.751-2308G>A
  • NM_001408435.1:c.751-2308G>A
  • NM_001408436.1:c.754-2308G>A
  • NM_001408437.1:c.754-2308G>A
  • NM_001408438.1:c.754-2308G>A
  • NM_001408439.1:c.754-2308G>A
  • NM_001408440.1:c.754-2308G>A
  • NM_001408441.1:c.754-2311G>A
  • NM_001408442.1:c.754-2311G>A
  • NM_001408443.1:c.754-2311G>A
  • NM_001408444.1:c.754-2311G>A
  • NM_001408445.1:c.751-2308G>A
  • NM_001408446.1:c.751-2308G>A
  • NM_001408447.1:c.751-2308G>A
  • NM_001408448.1:c.751-2308G>A
  • NM_001408450.1:c.751-2308G>A
  • NM_001408451.1:c.742-2308G>A
  • NM_001408452.1:c.736-2308G>A
  • NM_001408453.1:c.736-2308G>A
  • NM_001408454.1:c.736-2308G>A
  • NM_001408455.1:c.736-2308G>A
  • NM_001408456.1:c.736-2308G>A
  • NM_001408457.1:c.736-2308G>A
  • NM_001408458.1:c.736-2308G>A
  • NM_001408459.1:c.736-2308G>A
  • NM_001408460.1:c.736-2308G>A
  • NM_001408461.1:c.736-2308G>A
  • NM_001408462.1:c.733-2308G>A
  • NM_001408463.1:c.733-2308G>A
  • NM_001408464.1:c.733-2308G>A
  • NM_001408465.1:c.733-2308G>A
  • NM_001408466.1:c.736-2311G>A
  • NM_001408467.1:c.736-2311G>A
  • NM_001408468.1:c.733-2308G>A
  • NM_001408469.1:c.736-2311G>A
  • NM_001408470.1:c.733-2311G>A
  • NM_001408472.1:c.877-2311G>A
  • NM_001408473.1:c.874-2308G>A
  • NM_001408474.1:c.676-2308G>A
  • NM_001408475.1:c.673-2308G>A
  • NM_001408476.1:c.676-2308G>A
  • NM_001408478.1:c.667-2308G>A
  • NM_001408479.1:c.667-2308G>A
  • NM_001408480.1:c.667-2308G>A
  • NM_001408481.1:c.667-2308G>A
  • NM_001408482.1:c.667-2308G>A
  • NM_001408483.1:c.667-2308G>A
  • NM_001408484.1:c.667-2308G>A
  • NM_001408485.1:c.667-2308G>A
  • NM_001408489.1:c.667-2311G>A
  • NM_001408490.1:c.664-2308G>A
  • NM_001408491.1:c.664-2308G>A
  • NM_001408492.1:c.667-2311G>A
  • NM_001408493.1:c.664-2308G>A
  • NM_001408494.1:c.637-2308G>A
  • NM_001408495.1:c.634-2308G>A
  • NM_001408496.1:c.613-2308G>A
  • NM_001408497.1:c.613-2308G>A
  • NM_001408498.1:c.613-2308G>A
  • NM_001408499.1:c.613-2308G>A
  • NM_001408500.1:c.613-2308G>A
  • NM_001408501.1:c.613-2308G>A
  • NM_001408502.1:c.544-2308G>A
  • NM_001408503.1:c.610-2308G>A
  • NM_001408504.1:c.610-2308G>A
  • NM_001408505.1:c.610-2308G>A
  • NM_001408506.1:c.550-2308G>A
  • NM_001408507.1:c.550-2311G>A
  • NM_001408508.1:c.541-2311G>A
  • NM_001408509.1:c.541-2311G>A
  • NM_001408510.1:c.496-2308G>A
  • NM_001408511.1:c.493-2308G>A
  • NM_001408512.1:c.373-2308G>A
  • NM_001408513.1:c.667-2311G>A
  • NM_001408514.1:c.667-2308G>A
  • NM_007294.4:c.4186-2308G>AMANE SELECT
  • NM_007297.4:c.4045-2308G>A
  • NM_007298.4:c.877-2308G>A
  • NM_007299.4:c.877-2308G>A
  • NM_007300.4:c.4186-2308G>A
  • LRG_292t1:c.4186-2308G>A
  • LRG_292:g.133101G>A
  • NC_000017.10:g.41236900C>T
  • NM_007294.3:c.4186-2308G>A
Links:
dbSNP: rs552636154
NCBI 1000 Genomes Browser:
rs552636154
Molecular consequence:
  • NM_001407571.1:c.3973-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407582.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407583.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407585.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407587.1:c.4183-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407590.1:c.4183-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407591.1:c.4183-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407593.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407594.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407596.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407597.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407598.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407602.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407603.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407605.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407610.1:c.4183-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407611.1:c.4183-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407612.1:c.4183-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407613.1:c.4183-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407614.1:c.4183-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407615.1:c.4183-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407616.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407617.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407618.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407619.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407620.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407621.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407622.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407623.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407624.1:c.4186-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407625.1:c.4186-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407626.1:c.4186-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407627.1:c.4183-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407628.1:c.4183-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407629.1:c.4183-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407630.1:c.4183-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407631.1:c.4183-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407632.1:c.4183-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407633.1:c.4183-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407634.1:c.4183-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407635.1:c.4183-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407636.1:c.4183-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407637.1:c.4183-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407638.1:c.4183-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407639.1:c.4186-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407640.1:c.4186-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407641.1:c.4186-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407642.1:c.4186-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407644.1:c.4183-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407645.1:c.4183-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407646.1:c.4177-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407647.1:c.4177-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407648.1:c.4063-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407649.1:c.4060-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407652.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407653.1:c.4108-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407654.1:c.4108-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407655.1:c.4108-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407656.1:c.4108-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407657.1:c.4108-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407658.1:c.4108-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407659.1:c.4105-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407660.1:c.4105-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407661.1:c.4105-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407662.1:c.4105-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407663.1:c.4108-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407664.1:c.4063-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407665.1:c.4063-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407666.1:c.4063-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407667.1:c.4063-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407668.1:c.4063-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407669.1:c.4063-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407670.1:c.4060-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407671.1:c.4060-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407672.1:c.4060-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407673.1:c.4060-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407674.1:c.4063-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407675.1:c.4063-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407676.1:c.4063-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407677.1:c.4063-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407678.1:c.4063-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407679.1:c.4063-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407680.1:c.4063-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407681.1:c.4063-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407682.1:c.4063-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407683.1:c.4063-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407684.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407685.1:c.4060-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407686.1:c.4060-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407687.1:c.4060-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407688.1:c.4060-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407689.1:c.4060-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407690.1:c.4060-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407691.1:c.4060-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407692.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407694.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407695.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407696.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407697.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407724.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407725.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407727.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407728.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407729.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407730.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407731.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407733.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407734.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407735.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407737.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407739.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407740.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407741.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407743.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407745.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407746.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407748.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407749.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.4045-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.4045-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407752.1:c.4045-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407838.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407839.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407842.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407843.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407844.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407846.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407847.1:c.4042-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407848.1:c.4042-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.4042-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407850.1:c.4045-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407851.1:c.4045-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.4045-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407853.1:c.3973-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407854.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407858.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407859.1:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407860.1:c.4183-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.4183-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407862.1:c.3985-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407863.1:c.4063-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407874.1:c.3982-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407875.1:c.3982-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407879.1:c.3976-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.3976-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407882.1:c.3976-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407884.1:c.3976-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407885.1:c.3976-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407886.1:c.3976-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407887.1:c.3976-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407889.1:c.3976-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407894.1:c.3973-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407895.1:c.3973-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407896.1:c.3973-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407897.1:c.3973-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.3973-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407899.1:c.3973-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407900.1:c.3976-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.3976-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407904.1:c.3976-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407906.1:c.3976-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407907.1:c.3976-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407908.1:c.3976-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407909.1:c.3976-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407910.1:c.3976-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407915.1:c.3973-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407916.1:c.3973-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407917.1:c.3973-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407918.1:c.3973-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407919.1:c.4063-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407920.1:c.3922-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407921.1:c.3922-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407922.1:c.3922-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407923.1:c.3922-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.3922-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.3922-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407926.1:c.3922-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407927.1:c.3922-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.3922-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.3922-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407930.1:c.3919-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.3919-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.3919-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407933.1:c.3922-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407934.1:c.3919-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407935.1:c.3922-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.3919-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407937.1:c.4063-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407938.1:c.4063-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407939.1:c.4063-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407940.1:c.4060-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.4060-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407942.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407943.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407944.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407946.1:c.3853-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407947.1:c.3853-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407948.1:c.3853-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407949.1:c.3853-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407950.1:c.3853-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407951.1:c.3853-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407952.1:c.3853-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407953.1:c.3853-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407954.1:c.3850-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407955.1:c.3850-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407956.1:c.3850-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407957.1:c.3853-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407958.1:c.3850-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.3805-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407960.1:c.3805-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407962.1:c.3802-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.3805-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407964.1:c.4042-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407965.1:c.3682-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.3298-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.3298-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407968.1:c.1582-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.1582-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.877-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.877-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.874-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.877-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.877-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.877-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.877-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.877-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.877-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.877-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.877-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.877-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.877-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.877-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.874-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.874-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.874-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.877-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.874-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.874-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.877-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.874-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.874-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.874-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.874-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.874-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.874-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.874-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.874-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.877-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.877-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.871-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.874-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.868-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.799-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.736-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.799-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.799-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.796-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.799-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.799-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.796-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.760-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.760-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.760-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.757-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.760-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.760-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.757-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.754-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.754-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.754-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.754-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.754-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.754-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.757-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.751-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.751-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.751-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.751-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.754-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.754-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.754-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.754-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.754-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.754-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.754-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.754-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.754-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.751-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.751-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.751-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.751-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.751-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.742-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.736-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.736-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.736-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.736-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.736-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.736-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.736-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.736-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.736-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.736-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.733-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.733-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.733-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.733-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.736-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.736-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.733-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.736-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.733-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.877-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.874-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.676-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.673-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.676-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.667-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.667-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.667-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.667-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.667-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.667-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.667-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.667-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.667-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.664-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.664-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.667-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.664-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.637-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.634-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.613-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.613-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.613-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.613-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.613-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.613-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.544-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.610-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.610-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.610-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.550-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.550-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.541-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.541-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.496-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.493-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.373-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.667-2311G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.667-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.4045-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.877-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.877-2308G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.4186-2308G>A - intron variant - [Sequence Ontology: SO:0001627]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002538272Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Uncertain significance
(Feb 1, 2022) 		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition.

Dos Santos ES, Caputo SM, Castera L, Gendrot M, Briaux A, Breault M, Krieger S, Rogan PK, Mucaki EJ, Burke LJ; ENIGMA consortium., Bièche I, Houdayer C, Vaur D, Stoppa-Lyonnet D, Brown MA, Lallemand F, Rouleau E.

Breast Cancer Res Treat. 2018 Apr;168(2):311-325. doi: 10.1007/s10549-017-4602-0. Epub 2017 Dec 13.

PubMed [citation]
PMID:
29236234

Details of each submission

From Sema4, Sema4, SCV002538272.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024