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NM_007294.4(BRCA1):c.441+36_441+49del AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Benign (2 submissions)
Last evaluated:
May 28, 2019
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000211009.5

Allele description [Variation Report for NM_007294.4(BRCA1):c.441+36_441+49del]

NM_007294.4(BRCA1):c.441+36_441+49del

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.441+36_441+49del
HGVS:
  • NC_000017.11:g.43104075_43104088del
  • NG_005905.2:g.113898_113911del
  • NM_001407571.1:c.231+36_231+49del
  • NM_001407581.1:c.441+36_441+49del
  • NM_001407582.1:c.441+36_441+49del
  • NM_001407583.1:c.441+36_441+49del
  • NM_001407585.1:c.441+36_441+49del
  • NM_001407587.1:c.441+36_441+49del
  • NM_001407590.1:c.441+36_441+49del
  • NM_001407591.1:c.441+36_441+49del
  • NM_001407593.1:c.441+36_441+49del
  • NM_001407594.1:c.441+36_441+49del
  • NM_001407596.1:c.441+36_441+49del
  • NM_001407597.1:c.441+36_441+49del
  • NM_001407598.1:c.441+36_441+49del
  • NM_001407602.1:c.441+36_441+49del
  • NM_001407603.1:c.441+36_441+49del
  • NM_001407605.1:c.441+36_441+49del
  • NM_001407610.1:c.441+36_441+49del
  • NM_001407611.1:c.441+36_441+49del
  • NM_001407612.1:c.441+36_441+49del
  • NM_001407613.1:c.441+36_441+49del
  • NM_001407614.1:c.441+36_441+49del
  • NM_001407615.1:c.441+36_441+49del
  • NM_001407616.1:c.441+36_441+49del
  • NM_001407617.1:c.441+36_441+49del
  • NM_001407618.1:c.441+36_441+49del
  • NM_001407619.1:c.441+36_441+49del
  • NM_001407620.1:c.441+36_441+49del
  • NM_001407621.1:c.441+36_441+49del
  • NM_001407622.1:c.441+36_441+49del
  • NM_001407623.1:c.441+36_441+49del
  • NM_001407624.1:c.441+36_441+49del
  • NM_001407625.1:c.441+36_441+49del
  • NM_001407626.1:c.441+36_441+49del
  • NM_001407627.1:c.441+36_441+49del
  • NM_001407628.1:c.441+36_441+49del
  • NM_001407629.1:c.441+36_441+49del
  • NM_001407630.1:c.441+36_441+49del
  • NM_001407631.1:c.441+36_441+49del
  • NM_001407632.1:c.441+36_441+49del
  • NM_001407633.1:c.441+36_441+49del
  • NM_001407634.1:c.441+36_441+49del
  • NM_001407635.1:c.441+36_441+49del
  • NM_001407636.1:c.441+36_441+49del
  • NM_001407637.1:c.441+36_441+49del
  • NM_001407638.1:c.441+36_441+49del
  • NM_001407639.1:c.441+36_441+49del
  • NM_001407640.1:c.441+36_441+49del
  • NM_001407641.1:c.441+36_441+49del
  • NM_001407642.1:c.441+36_441+49del
  • NM_001407644.1:c.441+36_441+49del
  • NM_001407645.1:c.441+36_441+49del
  • NM_001407646.1:c.432+36_432+49del
  • NM_001407647.1:c.432+36_432+49del
  • NM_001407648.1:c.441+36_441+49del
  • NM_001407649.1:c.441+36_441+49del
  • NM_001407652.1:c.441+36_441+49del
  • NM_001407653.1:c.363+36_363+49del
  • NM_001407654.1:c.363+36_363+49del
  • NM_001407655.1:c.363+36_363+49del
  • NM_001407656.1:c.363+36_363+49del
  • NM_001407657.1:c.363+36_363+49del
  • NM_001407658.1:c.363+36_363+49del
  • NM_001407659.1:c.363+36_363+49del
  • NM_001407660.1:c.363+36_363+49del
  • NM_001407661.1:c.363+36_363+49del
  • NM_001407662.1:c.363+36_363+49del
  • NM_001407663.1:c.363+36_363+49del
  • NM_001407664.1:c.441+36_441+49del
  • NM_001407665.1:c.441+36_441+49del
  • NM_001407666.1:c.441+36_441+49del
  • NM_001407667.1:c.441+36_441+49del
  • NM_001407668.1:c.441+36_441+49del
  • NM_001407669.1:c.441+36_441+49del
  • NM_001407670.1:c.441+36_441+49del
  • NM_001407671.1:c.441+36_441+49del
  • NM_001407672.1:c.441+36_441+49del
  • NM_001407673.1:c.441+36_441+49del
  • NM_001407674.1:c.441+36_441+49del
  • NM_001407675.1:c.441+36_441+49del
  • NM_001407676.1:c.441+36_441+49del
  • NM_001407677.1:c.441+36_441+49del
  • NM_001407678.1:c.441+36_441+49del
  • NM_001407679.1:c.441+36_441+49del
  • NM_001407680.1:c.441+36_441+49del
  • NM_001407681.1:c.441+36_441+49del
  • NM_001407682.1:c.441+36_441+49del
  • NM_001407683.1:c.441+36_441+49del
  • NM_001407684.1:c.441+36_441+49del
  • NM_001407685.1:c.441+36_441+49del
  • NM_001407686.1:c.441+36_441+49del
  • NM_001407687.1:c.441+36_441+49del
  • NM_001407688.1:c.441+36_441+49del
  • NM_001407689.1:c.441+36_441+49del
  • NM_001407690.1:c.441+36_441+49del
  • NM_001407691.1:c.441+36_441+49del
  • NM_001407692.1:c.300+36_300+49del
  • NM_001407694.1:c.300+36_300+49del
  • NM_001407695.1:c.300+36_300+49del
  • NM_001407696.1:c.300+36_300+49del
  • NM_001407697.1:c.300+36_300+49del
  • NM_001407698.1:c.300+36_300+49del
  • NM_001407724.1:c.300+36_300+49del
  • NM_001407725.1:c.300+36_300+49del
  • NM_001407726.1:c.300+36_300+49del
  • NM_001407727.1:c.300+36_300+49del
  • NM_001407728.1:c.300+36_300+49del
  • NM_001407729.1:c.300+36_300+49del
  • NM_001407730.1:c.300+36_300+49del
  • NM_001407731.1:c.300+36_300+49del
  • NM_001407732.1:c.300+36_300+49del
  • NM_001407733.1:c.300+36_300+49del
  • NM_001407734.1:c.300+36_300+49del
  • NM_001407735.1:c.300+36_300+49del
  • NM_001407736.1:c.300+36_300+49del
  • NM_001407737.1:c.300+36_300+49del
  • NM_001407738.1:c.300+36_300+49del
  • NM_001407739.1:c.300+36_300+49del
  • NM_001407740.1:c.300+36_300+49del
  • NM_001407741.1:c.300+36_300+49del
  • NM_001407742.1:c.300+36_300+49del
  • NM_001407743.1:c.300+36_300+49del
  • NM_001407744.1:c.300+36_300+49del
  • NM_001407745.1:c.300+36_300+49del
  • NM_001407746.1:c.300+36_300+49del
  • NM_001407747.1:c.300+36_300+49del
  • NM_001407748.1:c.300+36_300+49del
  • NM_001407749.1:c.300+36_300+49del
  • NM_001407750.1:c.300+36_300+49del
  • NM_001407751.1:c.300+36_300+49del
  • NM_001407752.1:c.300+36_300+49del
  • NM_001407838.1:c.300+36_300+49del
  • NM_001407839.1:c.300+36_300+49del
  • NM_001407841.1:c.300+36_300+49del
  • NM_001407842.1:c.300+36_300+49del
  • NM_001407843.1:c.300+36_300+49del
  • NM_001407844.1:c.300+36_300+49del
  • NM_001407845.1:c.300+36_300+49del
  • NM_001407846.1:c.300+36_300+49del
  • NM_001407847.1:c.300+36_300+49del
  • NM_001407848.1:c.300+36_300+49del
  • NM_001407849.1:c.300+36_300+49del
  • NM_001407850.1:c.300+36_300+49del
  • NM_001407851.1:c.300+36_300+49del
  • NM_001407852.1:c.300+36_300+49del
  • NM_001407853.1:c.231+36_231+49del
  • NM_001407854.1:c.441+36_441+49del
  • NM_001407858.1:c.441+36_441+49del
  • NM_001407859.1:c.441+36_441+49del
  • NM_001407860.1:c.441+36_441+49del
  • NM_001407861.1:c.441+36_441+49del
  • NM_001407862.1:c.363+36_363+49del
  • NM_001407863.1:c.441+36_441+49del
  • NM_001407874.1:c.363+36_363+49del
  • NM_001407875.1:c.363+36_363+49del
  • NM_001407879.1:c.231+36_231+49del
  • NM_001407881.1:c.231+36_231+49del
  • NM_001407882.1:c.231+36_231+49del
  • NM_001407884.1:c.231+36_231+49del
  • NM_001407885.1:c.231+36_231+49del
  • NM_001407886.1:c.231+36_231+49del
  • NM_001407887.1:c.231+36_231+49del
  • NM_001407889.1:c.231+36_231+49del
  • NM_001407894.1:c.231+36_231+49del
  • NM_001407895.1:c.231+36_231+49del
  • NM_001407896.1:c.231+36_231+49del
  • NM_001407897.1:c.231+36_231+49del
  • NM_001407898.1:c.231+36_231+49del
  • NM_001407899.1:c.231+36_231+49del
  • NM_001407900.1:c.231+36_231+49del
  • NM_001407902.1:c.231+36_231+49del
  • NM_001407904.1:c.231+36_231+49del
  • NM_001407906.1:c.231+36_231+49del
  • NM_001407907.1:c.231+36_231+49del
  • NM_001407908.1:c.231+36_231+49del
  • NM_001407909.1:c.231+36_231+49del
  • NM_001407910.1:c.231+36_231+49del
  • NM_001407915.1:c.231+36_231+49del
  • NM_001407916.1:c.231+36_231+49del
  • NM_001407917.1:c.231+36_231+49del
  • NM_001407918.1:c.231+36_231+49del
  • NM_001407919.1:c.441+36_441+49del
  • NM_001407920.1:c.300+36_300+49del
  • NM_001407921.1:c.300+36_300+49del
  • NM_001407922.1:c.300+36_300+49del
  • NM_001407923.1:c.300+36_300+49del
  • NM_001407924.1:c.300+36_300+49del
  • NM_001407925.1:c.300+36_300+49del
  • NM_001407926.1:c.300+36_300+49del
  • NM_001407927.1:c.300+36_300+49del
  • NM_001407928.1:c.300+36_300+49del
  • NM_001407929.1:c.300+36_300+49del
  • NM_001407930.1:c.300+36_300+49del
  • NM_001407931.1:c.300+36_300+49del
  • NM_001407932.1:c.300+36_300+49del
  • NM_001407933.1:c.300+36_300+49del
  • NM_001407934.1:c.300+36_300+49del
  • NM_001407935.1:c.300+36_300+49del
  • NM_001407936.1:c.300+36_300+49del
  • NM_001407937.1:c.441+36_441+49del
  • NM_001407938.1:c.441+36_441+49del
  • NM_001407939.1:c.441+36_441+49del
  • NM_001407940.1:c.441+36_441+49del
  • NM_001407941.1:c.441+36_441+49del
  • NM_001407942.1:c.300+36_300+49del
  • NM_001407943.1:c.300+36_300+49del
  • NM_001407944.1:c.300+36_300+49del
  • NM_001407945.1:c.300+36_300+49del
  • NM_001407946.1:c.231+36_231+49del
  • NM_001407947.1:c.231+36_231+49del
  • NM_001407948.1:c.231+36_231+49del
  • NM_001407949.1:c.231+36_231+49del
  • NM_001407950.1:c.231+36_231+49del
  • NM_001407951.1:c.231+36_231+49del
  • NM_001407952.1:c.231+36_231+49del
  • NM_001407953.1:c.231+36_231+49del
  • NM_001407954.1:c.231+36_231+49del
  • NM_001407955.1:c.231+36_231+49del
  • NM_001407956.1:c.231+36_231+49del
  • NM_001407957.1:c.231+36_231+49del
  • NM_001407958.1:c.231+36_231+49del
  • NM_001407959.1:c.60+36_60+49del
  • NM_001407960.1:c.60+36_60+49del
  • NM_001407962.1:c.60+36_60+49del
  • NM_001407963.1:c.60+36_60+49del
  • NM_001407964.1:c.300+36_300+49del
  • NM_001407965.1:c.60+36_60+49del
  • NM_001407966.1:c.-218-9226_-218-9213del
  • NM_001407967.1:c.-218-9226_-218-9213del
  • NM_001407968.1:c.441+36_441+49del
  • NM_001407969.1:c.441+36_441+49del
  • NM_001407970.1:c.441+36_441+49del
  • NM_001407971.1:c.441+36_441+49del
  • NM_001407972.1:c.441+36_441+49del
  • NM_001407973.1:c.441+36_441+49del
  • NM_001407974.1:c.441+36_441+49del
  • NM_001407975.1:c.441+36_441+49del
  • NM_001407976.1:c.441+36_441+49del
  • NM_001407977.1:c.441+36_441+49del
  • NM_001407978.1:c.441+36_441+49del
  • NM_001407979.1:c.441+36_441+49del
  • NM_001407980.1:c.441+36_441+49del
  • NM_001407981.1:c.441+36_441+49del
  • NM_001407982.1:c.441+36_441+49del
  • NM_001407983.1:c.441+36_441+49del
  • NM_001407984.1:c.441+36_441+49del
  • NM_001407985.1:c.441+36_441+49del
  • NM_001407986.1:c.441+36_441+49del
  • NM_001407990.1:c.441+36_441+49del
  • NM_001407991.1:c.441+36_441+49del
  • NM_001407992.1:c.441+36_441+49del
  • NM_001407993.1:c.441+36_441+49del
  • NM_001408392.1:c.441+36_441+49del
  • NM_001408396.1:c.441+36_441+49del
  • NM_001408397.1:c.441+36_441+49del
  • NM_001408398.1:c.441+36_441+49del
  • NM_001408399.1:c.441+36_441+49del
  • NM_001408400.1:c.441+36_441+49del
  • NM_001408401.1:c.441+36_441+49del
  • NM_001408402.1:c.441+36_441+49del
  • NM_001408403.1:c.441+36_441+49del
  • NM_001408404.1:c.441+36_441+49del
  • NM_001408406.1:c.441+36_441+49del
  • NM_001408407.1:c.441+36_441+49del
  • NM_001408408.1:c.432+36_432+49del
  • NM_001408409.1:c.363+36_363+49del
  • NM_001408410.1:c.300+36_300+49del
  • NM_001408411.1:c.363+36_363+49del
  • NM_001408412.1:c.363+36_363+49del
  • NM_001408413.1:c.363+36_363+49del
  • NM_001408414.1:c.363+36_363+49del
  • NM_001408415.1:c.363+36_363+49del
  • NM_001408416.1:c.363+36_363+49del
  • NM_001408418.1:c.441+36_441+49del
  • NM_001408419.1:c.441+36_441+49del
  • NM_001408420.1:c.441+36_441+49del
  • NM_001408421.1:c.441+36_441+49del
  • NM_001408422.1:c.441+36_441+49del
  • NM_001408423.1:c.441+36_441+49del
  • NM_001408424.1:c.441+36_441+49del
  • NM_001408425.1:c.441+36_441+49del
  • NM_001408426.1:c.441+36_441+49del
  • NM_001408427.1:c.441+36_441+49del
  • NM_001408428.1:c.441+36_441+49del
  • NM_001408429.1:c.441+36_441+49del
  • NM_001408430.1:c.441+36_441+49del
  • NM_001408431.1:c.441+36_441+49del
  • NM_001408432.1:c.441+36_441+49del
  • NM_001408433.1:c.441+36_441+49del
  • NM_001408434.1:c.441+36_441+49del
  • NM_001408435.1:c.441+36_441+49del
  • NM_001408436.1:c.441+36_441+49del
  • NM_001408437.1:c.441+36_441+49del
  • NM_001408438.1:c.441+36_441+49del
  • NM_001408439.1:c.441+36_441+49del
  • NM_001408440.1:c.441+36_441+49del
  • NM_001408441.1:c.441+36_441+49del
  • NM_001408442.1:c.441+36_441+49del
  • NM_001408443.1:c.441+36_441+49del
  • NM_001408444.1:c.441+36_441+49del
  • NM_001408445.1:c.441+36_441+49del
  • NM_001408446.1:c.441+36_441+49del
  • NM_001408447.1:c.441+36_441+49del
  • NM_001408448.1:c.441+36_441+49del
  • NM_001408450.1:c.441+36_441+49del
  • NM_001408451.1:c.309+36_309+49del
  • NM_001408452.1:c.300+36_300+49del
  • NM_001408453.1:c.300+36_300+49del
  • NM_001408454.1:c.300+36_300+49del
  • NM_001408455.1:c.300+36_300+49del
  • NM_001408456.1:c.300+36_300+49del
  • NM_001408457.1:c.300+36_300+49del
  • NM_001408458.1:c.300+36_300+49del
  • NM_001408459.1:c.300+36_300+49del
  • NM_001408460.1:c.300+36_300+49del
  • NM_001408461.1:c.300+36_300+49del
  • NM_001408462.1:c.300+36_300+49del
  • NM_001408463.1:c.300+36_300+49del
  • NM_001408464.1:c.300+36_300+49del
  • NM_001408465.1:c.300+36_300+49del
  • NM_001408466.1:c.300+36_300+49del
  • NM_001408467.1:c.300+36_300+49del
  • NM_001408468.1:c.300+36_300+49del
  • NM_001408469.1:c.300+36_300+49del
  • NM_001408470.1:c.300+36_300+49del
  • NM_001408472.1:c.441+36_441+49del
  • NM_001408473.1:c.441+36_441+49del
  • NM_001408474.1:c.363+36_363+49del
  • NM_001408475.1:c.363+36_363+49del
  • NM_001408476.1:c.363+36_363+49del
  • NM_001408478.1:c.231+36_231+49del
  • NM_001408479.1:c.231+36_231+49del
  • NM_001408480.1:c.231+36_231+49del
  • NM_001408481.1:c.231+36_231+49del
  • NM_001408482.1:c.231+36_231+49del
  • NM_001408483.1:c.231+36_231+49del
  • NM_001408484.1:c.231+36_231+49del
  • NM_001408485.1:c.231+36_231+49del
  • NM_001408489.1:c.231+36_231+49del
  • NM_001408490.1:c.231+36_231+49del
  • NM_001408491.1:c.231+36_231+49del
  • NM_001408492.1:c.231+36_231+49del
  • NM_001408493.1:c.231+36_231+49del
  • NM_001408494.1:c.441+36_441+49del
  • NM_001408495.1:c.441+36_441+49del
  • NM_001408496.1:c.300+36_300+49del
  • NM_001408497.1:c.300+36_300+49del
  • NM_001408498.1:c.300+36_300+49del
  • NM_001408499.1:c.300+36_300+49del
  • NM_001408500.1:c.300+36_300+49del
  • NM_001408501.1:c.300+36_300+49del
  • NM_001408502.1:c.231+36_231+49del
  • NM_001408503.1:c.300+36_300+49del
  • NM_001408504.1:c.300+36_300+49del
  • NM_001408505.1:c.300+36_300+49del
  • NM_001408506.1:c.231+36_231+49del
  • NM_001408507.1:c.231+36_231+49del
  • NM_001408508.1:c.231+36_231+49del
  • NM_001408509.1:c.231+36_231+49del
  • NM_001408510.1:c.60+36_60+49del
  • NM_001408511.1:c.300+36_300+49del
  • NM_001408512.1:c.60+36_60+49del
  • NM_001408513.1:c.231+36_231+49del
  • NM_001408514.1:c.231+36_231+49del
  • NM_007294.4:c.441+36_441+49delMANE SELECT
  • NM_007297.4:c.300+36_300+49del
  • NM_007298.4:c.441+36_441+49del
  • NM_007299.4:c.441+36_441+49del
  • NM_007300.4:c.441+36_441+49del
  • LRG_292:g.113898_113911del
  • NC_000017.10:g.41256090_41256103delAAAAAAAAGAAAAG
  • NC_000017.10:g.41256092_41256105del
  • NM_007294.3:c.441+36_441+49delCTTTTCTTTTTTTT
  • NM_007299.3:c.441+36_441+49delCTTTTCTTTTTTTT
Links:
dbSNP: rs373413425
NCBI 1000 Genomes Browser:
rs373413425
Molecular consequence:
  • NM_001407571.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407582.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407583.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407585.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407587.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407590.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407591.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407593.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407594.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407596.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407597.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407598.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407602.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407603.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407605.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407610.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407611.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407612.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407613.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407614.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407615.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407616.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407617.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407618.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407619.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407620.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407621.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407622.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407623.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407624.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407625.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407626.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407627.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407628.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407629.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407630.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407631.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407632.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407633.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407634.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407635.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407636.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407637.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407638.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407639.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407640.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407641.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407642.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407644.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407645.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407646.1:c.432+36_432+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407647.1:c.432+36_432+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407648.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407649.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407652.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407653.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407654.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407655.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407656.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407657.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407658.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407659.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407660.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407661.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407662.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407663.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407664.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407665.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407666.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407667.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407668.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407669.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407670.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407671.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407672.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407673.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407674.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407675.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407676.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407677.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407678.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407679.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407680.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407681.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407682.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407683.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407684.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407685.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407686.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407687.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407688.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407689.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407690.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407691.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407692.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407694.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407695.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407696.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407697.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407724.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407725.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407727.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407728.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407729.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407730.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407731.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407733.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407734.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407735.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407737.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407739.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407740.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407741.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407743.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407745.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407746.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407748.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407749.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407752.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407838.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407839.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407842.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407843.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407844.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407846.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407847.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407848.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407850.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407851.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407853.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407854.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407858.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407859.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407860.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407862.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407863.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407874.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407875.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407879.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407882.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407884.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407885.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407886.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407887.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407889.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407894.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407895.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407896.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407897.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407899.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407900.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407904.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407906.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407907.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407908.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407909.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407910.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407915.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407916.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407917.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407918.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407919.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407920.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407921.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407922.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407923.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407926.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407927.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407930.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407933.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407934.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407935.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407937.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407938.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407939.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407940.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407942.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407943.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407944.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407946.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407947.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407948.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407949.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407950.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407951.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407952.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407953.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407954.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407955.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407956.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407957.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407958.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.60+36_60+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407960.1:c.60+36_60+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407962.1:c.60+36_60+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.60+36_60+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407964.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407965.1:c.60+36_60+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.-218-9226_-218-9213del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.-218-9226_-218-9213del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407968.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.432+36_432+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.309+36_309+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.363+36_363+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.60+36_60+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.60+36_60+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.231+36_231+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.300+36_300+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.441+36_441+49del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000195882Michigan Medical Genetics Laboratories, University of Michigan
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Nov 3, 2014) 		germlineclinical testing

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

SCV001140635Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Benign
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Michigan Medical Genetics Laboratories, University of Michigan, SCV000195882.1

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

From Mendelics, SCV001140635.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024