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NM_007294.4(BRCA1):c.4186-10G>A AND not specified

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Aug 15, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000212182.23

Allele description [Variation Report for NM_007294.4(BRCA1):c.4186-10G>A]

NM_007294.4(BRCA1):c.4186-10G>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.4186-10G>A
HGVS:
  • NC_000017.11:g.43082585C>T
  • NG_005905.2:g.135399G>A
  • NM_001407571.1:c.3973-10G>A
  • NM_001407581.1:c.4186-10G>A
  • NM_001407582.1:c.4186-10G>A
  • NM_001407583.1:c.4186-10G>A
  • NM_001407585.1:c.4186-10G>A
  • NM_001407587.1:c.4183-10G>A
  • NM_001407590.1:c.4183-10G>A
  • NM_001407591.1:c.4183-10G>A
  • NM_001407593.1:c.4186-10G>A
  • NM_001407594.1:c.4186-10G>A
  • NM_001407596.1:c.4186-10G>A
  • NM_001407597.1:c.4186-10G>A
  • NM_001407598.1:c.4186-10G>A
  • NM_001407602.1:c.4186-10G>A
  • NM_001407603.1:c.4186-10G>A
  • NM_001407605.1:c.4186-10G>A
  • NM_001407610.1:c.4183-10G>A
  • NM_001407611.1:c.4183-10G>A
  • NM_001407612.1:c.4183-10G>A
  • NM_001407613.1:c.4183-10G>A
  • NM_001407614.1:c.4183-10G>A
  • NM_001407615.1:c.4183-10G>A
  • NM_001407616.1:c.4186-10G>A
  • NM_001407617.1:c.4186-10G>A
  • NM_001407618.1:c.4186-10G>A
  • NM_001407619.1:c.4186-10G>A
  • NM_001407620.1:c.4186-10G>A
  • NM_001407621.1:c.4186-10G>A
  • NM_001407622.1:c.4186-10G>A
  • NM_001407623.1:c.4186-10G>A
  • NM_001407624.1:c.4186-13G>A
  • NM_001407625.1:c.4186-13G>A
  • NM_001407626.1:c.4186-13G>A
  • NM_001407627.1:c.4183-13G>A
  • NM_001407628.1:c.4183-13G>A
  • NM_001407629.1:c.4183-13G>A
  • NM_001407630.1:c.4183-13G>A
  • NM_001407631.1:c.4183-13G>A
  • NM_001407632.1:c.4183-13G>A
  • NM_001407633.1:c.4183-10G>A
  • NM_001407634.1:c.4183-10G>A
  • NM_001407635.1:c.4183-10G>A
  • NM_001407636.1:c.4183-10G>A
  • NM_001407637.1:c.4183-10G>A
  • NM_001407638.1:c.4183-10G>A
  • NM_001407639.1:c.4186-13G>A
  • NM_001407640.1:c.4186-13G>A
  • NM_001407641.1:c.4186-13G>A
  • NM_001407642.1:c.4186-13G>A
  • NM_001407644.1:c.4183-13G>A
  • NM_001407645.1:c.4183-13G>A
  • NM_001407646.1:c.4177-13G>A
  • NM_001407647.1:c.4177-13G>A
  • NM_001407648.1:c.4063-10G>A
  • NM_001407649.1:c.4060-10G>A
  • NM_001407652.1:c.4186-10G>A
  • NM_001407653.1:c.4108-10G>A
  • NM_001407654.1:c.4108-10G>A
  • NM_001407655.1:c.4108-10G>A
  • NM_001407656.1:c.4108-13G>A
  • NM_001407657.1:c.4108-10G>A
  • NM_001407658.1:c.4108-10G>A
  • NM_001407659.1:c.4105-13G>A
  • NM_001407660.1:c.4105-13G>A
  • NM_001407661.1:c.4105-10G>A
  • NM_001407662.1:c.4105-10G>A
  • NM_001407663.1:c.4108-13G>A
  • NM_001407664.1:c.4063-10G>A
  • NM_001407665.1:c.4063-10G>A
  • NM_001407666.1:c.4063-10G>A
  • NM_001407667.1:c.4063-10G>A
  • NM_001407668.1:c.4063-10G>A
  • NM_001407669.1:c.4063-10G>A
  • NM_001407670.1:c.4060-10G>A
  • NM_001407671.1:c.4060-10G>A
  • NM_001407672.1:c.4060-10G>A
  • NM_001407673.1:c.4060-10G>A
  • NM_001407674.1:c.4063-13G>A
  • NM_001407675.1:c.4063-13G>A
  • NM_001407676.1:c.4063-13G>A
  • NM_001407677.1:c.4063-10G>A
  • NM_001407678.1:c.4063-10G>A
  • NM_001407679.1:c.4063-10G>A
  • NM_001407680.1:c.4063-10G>A
  • NM_001407681.1:c.4063-13G>A
  • NM_001407682.1:c.4063-13G>A
  • NM_001407683.1:c.4063-13G>A
  • NM_001407684.1:c.4186-10G>A
  • NM_001407685.1:c.4060-13G>A
  • NM_001407686.1:c.4060-13G>A
  • NM_001407687.1:c.4060-13G>A
  • NM_001407688.1:c.4060-10G>A
  • NM_001407689.1:c.4060-10G>A
  • NM_001407690.1:c.4060-13G>A
  • NM_001407691.1:c.4060-13G>A
  • NM_001407692.1:c.4045-10G>A
  • NM_001407694.1:c.4045-10G>A
  • NM_001407695.1:c.4045-10G>A
  • NM_001407696.1:c.4045-10G>A
  • NM_001407697.1:c.4045-10G>A
  • NM_001407698.1:c.4045-10G>A
  • NM_001407724.1:c.4045-10G>A
  • NM_001407725.1:c.4045-10G>A
  • NM_001407726.1:c.4045-10G>A
  • NM_001407727.1:c.4045-10G>A
  • NM_001407728.1:c.4045-10G>A
  • NM_001407729.1:c.4045-10G>A
  • NM_001407730.1:c.4045-10G>A
  • NM_001407731.1:c.4045-10G>A
  • NM_001407732.1:c.4045-10G>A
  • NM_001407733.1:c.4045-10G>A
  • NM_001407734.1:c.4045-10G>A
  • NM_001407735.1:c.4045-10G>A
  • NM_001407736.1:c.4045-10G>A
  • NM_001407737.1:c.4045-10G>A
  • NM_001407738.1:c.4045-10G>A
  • NM_001407739.1:c.4045-10G>A
  • NM_001407740.1:c.4042-10G>A
  • NM_001407741.1:c.4042-10G>A
  • NM_001407742.1:c.4042-10G>A
  • NM_001407743.1:c.4042-10G>A
  • NM_001407744.1:c.4042-10G>A
  • NM_001407745.1:c.4042-10G>A
  • NM_001407746.1:c.4042-10G>A
  • NM_001407747.1:c.4042-10G>A
  • NM_001407748.1:c.4042-10G>A
  • NM_001407749.1:c.4042-10G>A
  • NM_001407750.1:c.4045-13G>A
  • NM_001407751.1:c.4045-13G>A
  • NM_001407752.1:c.4045-13G>A
  • NM_001407838.1:c.4042-10G>A
  • NM_001407839.1:c.4042-10G>A
  • NM_001407841.1:c.4042-10G>A
  • NM_001407842.1:c.4042-10G>A
  • NM_001407843.1:c.4042-10G>A
  • NM_001407844.1:c.4042-10G>A
  • NM_001407845.1:c.4042-10G>A
  • NM_001407846.1:c.4042-10G>A
  • NM_001407847.1:c.4042-13G>A
  • NM_001407848.1:c.4042-13G>A
  • NM_001407849.1:c.4042-13G>A
  • NM_001407850.1:c.4045-13G>A
  • NM_001407851.1:c.4045-13G>A
  • NM_001407852.1:c.4045-13G>A
  • NM_001407853.1:c.3973-10G>A
  • NM_001407854.1:c.4186-10G>A
  • NM_001407858.1:c.4186-10G>A
  • NM_001407859.1:c.4186-10G>A
  • NM_001407860.1:c.4183-10G>A
  • NM_001407861.1:c.4183-10G>A
  • NM_001407862.1:c.3985-10G>A
  • NM_001407863.1:c.4063-10G>A
  • NM_001407874.1:c.3982-10G>A
  • NM_001407875.1:c.3982-10G>A
  • NM_001407879.1:c.3976-10G>A
  • NM_001407881.1:c.3976-10G>A
  • NM_001407882.1:c.3976-10G>A
  • NM_001407884.1:c.3976-10G>A
  • NM_001407885.1:c.3976-10G>A
  • NM_001407886.1:c.3976-10G>A
  • NM_001407887.1:c.3976-10G>A
  • NM_001407889.1:c.3976-10G>A
  • NM_001407894.1:c.3973-10G>A
  • NM_001407895.1:c.3973-10G>A
  • NM_001407896.1:c.3973-10G>A
  • NM_001407897.1:c.3973-10G>A
  • NM_001407898.1:c.3973-10G>A
  • NM_001407899.1:c.3973-10G>A
  • NM_001407900.1:c.3976-10G>A
  • NM_001407902.1:c.3976-10G>A
  • NM_001407904.1:c.3976-10G>A
  • NM_001407906.1:c.3976-10G>A
  • NM_001407907.1:c.3976-13G>A
  • NM_001407908.1:c.3976-13G>A
  • NM_001407909.1:c.3976-13G>A
  • NM_001407910.1:c.3976-13G>A
  • NM_001407915.1:c.3973-13G>A
  • NM_001407916.1:c.3973-10G>A
  • NM_001407917.1:c.3973-10G>A
  • NM_001407918.1:c.3973-10G>A
  • NM_001407919.1:c.4063-10G>A
  • NM_001407920.1:c.3922-10G>A
  • NM_001407921.1:c.3922-10G>A
  • NM_001407922.1:c.3922-10G>A
  • NM_001407923.1:c.3922-10G>A
  • NM_001407924.1:c.3922-10G>A
  • NM_001407925.1:c.3922-10G>A
  • NM_001407926.1:c.3922-10G>A
  • NM_001407927.1:c.3922-10G>A
  • NM_001407928.1:c.3922-10G>A
  • NM_001407929.1:c.3922-10G>A
  • NM_001407930.1:c.3919-10G>A
  • NM_001407931.1:c.3919-10G>A
  • NM_001407932.1:c.3919-10G>A
  • NM_001407933.1:c.3922-13G>A
  • NM_001407934.1:c.3919-13G>A
  • NM_001407935.1:c.3922-13G>A
  • NM_001407936.1:c.3919-10G>A
  • NM_001407937.1:c.4063-10G>A
  • NM_001407938.1:c.4063-10G>A
  • NM_001407939.1:c.4063-10G>A
  • NM_001407940.1:c.4060-10G>A
  • NM_001407941.1:c.4060-10G>A
  • NM_001407942.1:c.4045-10G>A
  • NM_001407943.1:c.4042-10G>A
  • NM_001407944.1:c.4045-10G>A
  • NM_001407945.1:c.4045-10G>A
  • NM_001407946.1:c.3853-10G>A
  • NM_001407947.1:c.3853-10G>A
  • NM_001407948.1:c.3853-10G>A
  • NM_001407949.1:c.3853-10G>A
  • NM_001407950.1:c.3853-10G>A
  • NM_001407951.1:c.3853-10G>A
  • NM_001407952.1:c.3853-13G>A
  • NM_001407953.1:c.3853-13G>A
  • NM_001407954.1:c.3850-10G>A
  • NM_001407955.1:c.3850-10G>A
  • NM_001407956.1:c.3850-13G>A
  • NM_001407957.1:c.3853-13G>A
  • NM_001407958.1:c.3850-10G>A
  • NM_001407959.1:c.3805-10G>A
  • NM_001407960.1:c.3805-10G>A
  • NM_001407962.1:c.3802-10G>A
  • NM_001407963.1:c.3805-13G>A
  • NM_001407964.1:c.4042-10G>A
  • NM_001407965.1:c.3682-13G>A
  • NM_001407966.1:c.3298-10G>A
  • NM_001407967.1:c.3298-10G>A
  • NM_001407968.1:c.1582-10G>A
  • NM_001407969.1:c.1582-13G>A
  • NM_001407970.1:c.877-10G>A
  • NM_001407971.1:c.877-10G>A
  • NM_001407972.1:c.874-10G>A
  • NM_001407973.1:c.877-10G>A
  • NM_001407974.1:c.877-10G>A
  • NM_001407975.1:c.877-10G>A
  • NM_001407976.1:c.877-10G>A
  • NM_001407977.1:c.877-10G>A
  • NM_001407978.1:c.877-10G>A
  • NM_001407979.1:c.877-13G>A
  • NM_001407980.1:c.877-13G>A
  • NM_001407981.1:c.877-13G>A
  • NM_001407982.1:c.877-13G>A
  • NM_001407983.1:c.877-13G>A
  • NM_001407984.1:c.874-10G>A
  • NM_001407985.1:c.874-10G>A
  • NM_001407986.1:c.874-10G>A
  • NM_001407990.1:c.877-13G>A
  • NM_001407991.1:c.874-10G>A
  • NM_001407992.1:c.874-10G>A
  • NM_001407993.1:c.877-10G>A
  • NM_001408392.1:c.874-10G>A
  • NM_001408396.1:c.874-10G>A
  • NM_001408397.1:c.874-10G>A
  • NM_001408398.1:c.874-10G>A
  • NM_001408399.1:c.874-10G>A
  • NM_001408400.1:c.874-13G>A
  • NM_001408401.1:c.874-13G>A
  • NM_001408402.1:c.874-13G>A
  • NM_001408403.1:c.877-13G>A
  • NM_001408404.1:c.877-13G>A
  • NM_001408406.1:c.871-13G>A
  • NM_001408407.1:c.874-13G>A
  • NM_001408408.1:c.868-10G>A
  • NM_001408409.1:c.799-10G>A
  • NM_001408410.1:c.736-10G>A
  • NM_001408411.1:c.799-10G>A
  • NM_001408412.1:c.799-10G>A
  • NM_001408413.1:c.796-10G>A
  • NM_001408414.1:c.799-10G>A
  • NM_001408415.1:c.799-10G>A
  • NM_001408416.1:c.796-10G>A
  • NM_001408418.1:c.760-10G>A
  • NM_001408419.1:c.760-10G>A
  • NM_001408420.1:c.760-10G>A
  • NM_001408421.1:c.757-10G>A
  • NM_001408422.1:c.760-10G>A
  • NM_001408423.1:c.760-10G>A
  • NM_001408424.1:c.757-10G>A
  • NM_001408425.1:c.754-10G>A
  • NM_001408426.1:c.754-10G>A
  • NM_001408427.1:c.754-10G>A
  • NM_001408428.1:c.754-10G>A
  • NM_001408429.1:c.754-10G>A
  • NM_001408430.1:c.754-10G>A
  • NM_001408431.1:c.757-10G>A
  • NM_001408432.1:c.751-10G>A
  • NM_001408433.1:c.751-10G>A
  • NM_001408434.1:c.751-10G>A
  • NM_001408435.1:c.751-10G>A
  • NM_001408436.1:c.754-10G>A
  • NM_001408437.1:c.754-10G>A
  • NM_001408438.1:c.754-10G>A
  • NM_001408439.1:c.754-10G>A
  • NM_001408440.1:c.754-10G>A
  • NM_001408441.1:c.754-13G>A
  • NM_001408442.1:c.754-13G>A
  • NM_001408443.1:c.754-13G>A
  • NM_001408444.1:c.754-13G>A
  • NM_001408445.1:c.751-10G>A
  • NM_001408446.1:c.751-10G>A
  • NM_001408447.1:c.751-10G>A
  • NM_001408448.1:c.751-10G>A
  • NM_001408450.1:c.751-10G>A
  • NM_001408451.1:c.742-10G>A
  • NM_001408452.1:c.736-10G>A
  • NM_001408453.1:c.736-10G>A
  • NM_001408454.1:c.736-10G>A
  • NM_001408455.1:c.736-10G>A
  • NM_001408456.1:c.736-10G>A
  • NM_001408457.1:c.736-10G>A
  • NM_001408458.1:c.736-10G>A
  • NM_001408459.1:c.736-10G>A
  • NM_001408460.1:c.736-10G>A
  • NM_001408461.1:c.736-10G>A
  • NM_001408462.1:c.733-10G>A
  • NM_001408463.1:c.733-10G>A
  • NM_001408464.1:c.733-10G>A
  • NM_001408465.1:c.733-10G>A
  • NM_001408466.1:c.736-13G>A
  • NM_001408467.1:c.736-13G>A
  • NM_001408468.1:c.733-10G>A
  • NM_001408469.1:c.736-13G>A
  • NM_001408470.1:c.733-13G>A
  • NM_001408472.1:c.877-13G>A
  • NM_001408473.1:c.874-10G>A
  • NM_001408474.1:c.676-10G>A
  • NM_001408475.1:c.673-10G>A
  • NM_001408476.1:c.676-10G>A
  • NM_001408478.1:c.667-10G>A
  • NM_001408479.1:c.667-10G>A
  • NM_001408480.1:c.667-10G>A
  • NM_001408481.1:c.667-10G>A
  • NM_001408482.1:c.667-10G>A
  • NM_001408483.1:c.667-10G>A
  • NM_001408484.1:c.667-10G>A
  • NM_001408485.1:c.667-10G>A
  • NM_001408489.1:c.667-13G>A
  • NM_001408490.1:c.664-10G>A
  • NM_001408491.1:c.664-10G>A
  • NM_001408492.1:c.667-13G>A
  • NM_001408493.1:c.664-10G>A
  • NM_001408494.1:c.637-10G>A
  • NM_001408495.1:c.634-10G>A
  • NM_001408496.1:c.613-10G>A
  • NM_001408497.1:c.613-10G>A
  • NM_001408498.1:c.613-10G>A
  • NM_001408499.1:c.613-10G>A
  • NM_001408500.1:c.613-10G>A
  • NM_001408501.1:c.613-10G>A
  • NM_001408502.1:c.544-10G>A
  • NM_001408503.1:c.610-10G>A
  • NM_001408504.1:c.610-10G>A
  • NM_001408505.1:c.610-10G>A
  • NM_001408506.1:c.550-10G>A
  • NM_001408507.1:c.550-13G>A
  • NM_001408508.1:c.541-13G>A
  • NM_001408509.1:c.541-13G>A
  • NM_001408510.1:c.496-10G>A
  • NM_001408511.1:c.493-10G>A
  • NM_001408512.1:c.373-10G>A
  • NM_001408513.1:c.667-13G>A
  • NM_001408514.1:c.667-10G>A
  • NM_007294.4:c.4186-10G>AMANE SELECT
  • NM_007297.4:c.4045-10G>A
  • NM_007298.4:c.877-10G>A
  • NM_007299.4:c.877-10G>A
  • NM_007300.4:c.4186-10G>A
  • LRG_292t1:c.4186-10G>A
  • LRG_292:g.135399G>A
  • NC_000017.10:g.41234602C>T
  • NM_007294.3:c.4186-10G>A
  • NM_007294.4:c.4186-10G>A
  • U14680.1:n.4305-10G>A
Nucleotide change:
IVS12-10G>A
Links:
Breast Cancer Information Core (BIC) (BRCA1): 4305-10&base_change=G to A; dbSNP: rs80358172
NCBI 1000 Genomes Browser:
rs80358172
Molecular consequence:
  • NM_001407571.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407582.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407583.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407585.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407587.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407590.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407591.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407593.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407594.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407596.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407597.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407598.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407602.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407603.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407605.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407610.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407611.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407612.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407613.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407614.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407615.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407616.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407617.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407618.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407619.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407620.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407621.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407622.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407623.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407624.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407625.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407626.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407627.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407628.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407629.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407630.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407631.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407632.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407633.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407634.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407635.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407636.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407637.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407638.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407639.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407640.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407641.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407642.1:c.4186-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407644.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407645.1:c.4183-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407646.1:c.4177-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407647.1:c.4177-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407648.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407649.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407652.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407653.1:c.4108-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407654.1:c.4108-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407655.1:c.4108-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407656.1:c.4108-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407657.1:c.4108-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407658.1:c.4108-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407659.1:c.4105-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407660.1:c.4105-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407661.1:c.4105-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407662.1:c.4105-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407663.1:c.4108-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407664.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407665.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407666.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407667.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407668.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407669.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407670.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407671.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407672.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407673.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407674.1:c.4063-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407675.1:c.4063-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407676.1:c.4063-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407677.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407678.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407679.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407680.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407681.1:c.4063-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407682.1:c.4063-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407683.1:c.4063-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407684.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407685.1:c.4060-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407686.1:c.4060-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407687.1:c.4060-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407688.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407689.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407690.1:c.4060-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407691.1:c.4060-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407692.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407694.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407695.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407696.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407697.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407724.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407725.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407727.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407728.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407729.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407730.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407731.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407733.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407734.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407735.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407737.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407739.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407740.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407741.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407743.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407745.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407746.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407748.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407749.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.4045-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.4045-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407752.1:c.4045-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407838.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407839.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407842.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407843.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407844.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407846.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407847.1:c.4042-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407848.1:c.4042-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.4042-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407850.1:c.4045-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407851.1:c.4045-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.4045-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407853.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407854.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407858.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407859.1:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407860.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.4183-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407862.1:c.3985-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407863.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407874.1:c.3982-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407875.1:c.3982-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407879.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407882.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407884.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407885.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407886.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407887.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407889.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407894.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407895.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407896.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407897.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407899.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407900.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407904.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407906.1:c.3976-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407907.1:c.3976-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407908.1:c.3976-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407909.1:c.3976-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407910.1:c.3976-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407915.1:c.3973-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407916.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407917.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407918.1:c.3973-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407919.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407920.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407921.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407922.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407923.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407926.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407927.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.3922-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407930.1:c.3919-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.3919-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.3919-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407933.1:c.3922-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407934.1:c.3919-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407935.1:c.3922-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.3919-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407937.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407938.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407939.1:c.4063-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407940.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.4060-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407942.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407943.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407944.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407946.1:c.3853-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407947.1:c.3853-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407948.1:c.3853-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407949.1:c.3853-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407950.1:c.3853-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407951.1:c.3853-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407952.1:c.3853-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407953.1:c.3853-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407954.1:c.3850-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407955.1:c.3850-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407956.1:c.3850-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407957.1:c.3853-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407958.1:c.3850-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.3805-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407960.1:c.3805-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407962.1:c.3802-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.3805-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407964.1:c.4042-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407965.1:c.3682-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.3298-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.3298-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407968.1:c.1582-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.1582-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.874-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.874-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.874-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.871-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.874-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.868-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.799-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.799-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.799-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.796-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.799-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.799-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.796-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.760-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.760-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.760-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.757-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.760-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.760-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.757-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.757-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.754-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.754-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.754-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.754-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.754-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.751-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.742-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.736-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.733-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.733-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.733-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.733-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.736-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.736-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.733-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.736-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.733-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.877-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.874-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.676-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.673-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.676-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.667-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.664-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.664-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.667-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.664-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.637-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.634-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.613-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.613-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.613-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.613-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.613-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.613-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.544-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.610-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.610-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.610-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.550-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.550-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.541-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.541-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.496-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.493-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.373-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.667-13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.667-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.4045-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.877-10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.4186-10G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000593679Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 19, 2016) 		germlineclinical testing

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

SCV000605869Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Benign
(Oct 13, 2020) 		unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV002760927Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Aug 15, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Molecular genetics analysis of hereditary breast and ovarian cancer patients in India.

Soumittra N, Meenakumari B, Parija T, Sridevi V, Nancy KN, Swaminathan R, Rajalekshmy KR, Majhi U, Rajkumar T.

Hered Cancer Clin Pract. 2009 Aug 6;7(1):13. doi: 10.1186/1897-4287-7-13.

PubMed [citation]
PMID:
19656415
PMCID:
PMC2731042

Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11.

Baert A, Machackova E, Coene I, Cremin C, Turner K, Portigal-Todd C, Asrat MJ, Nuk J, Mindlin A, Young S, MacMillan A, Van Maerken T, Trbusek M, McKinnon W, Wood ME, Foulkes WD, Santamariña M, de la Hoya M, Foretova L, Poppe B, Vral A, Rosseel T, et al.

Hum Mutat. 2018 Apr;39(4):515-526. doi: 10.1002/humu.23390. Epub 2018 Jan 22.

PubMed [citation]
PMID:
29280214
See all PubMed Citations (5)

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000593679.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000605869.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002760927.3

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

Last Updated: Nov 10, 2024