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NM_007294.4(BRCA1):c.4185+9C>T AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
May 11, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000587259.8

Allele description [Variation Report for NM_007294.4(BRCA1):c.4185+9C>T]

NM_007294.4(BRCA1):c.4185+9C>T

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.4185+9C>T
HGVS:
  • NC_000017.11:g.43090935G>A
  • NG_005905.2:g.127049C>T
  • NM_001407571.1:c.3972+9C>T
  • NM_001407581.1:c.4185+9C>T
  • NM_001407582.1:c.4185+9C>T
  • NM_001407583.1:c.4185+9C>T
  • NM_001407585.1:c.4185+9C>T
  • NM_001407587.1:c.4182+9C>T
  • NM_001407590.1:c.4182+9C>T
  • NM_001407591.1:c.4182+9C>T
  • NM_001407593.1:c.4185+9C>T
  • NM_001407594.1:c.4185+9C>T
  • NM_001407596.1:c.4185+9C>T
  • NM_001407597.1:c.4185+9C>T
  • NM_001407598.1:c.4185+9C>T
  • NM_001407602.1:c.4185+9C>T
  • NM_001407603.1:c.4185+9C>T
  • NM_001407605.1:c.4185+9C>T
  • NM_001407610.1:c.4182+9C>T
  • NM_001407611.1:c.4182+9C>T
  • NM_001407612.1:c.4182+9C>T
  • NM_001407613.1:c.4182+9C>T
  • NM_001407614.1:c.4182+9C>T
  • NM_001407615.1:c.4182+9C>T
  • NM_001407616.1:c.4185+9C>T
  • NM_001407617.1:c.4185+9C>T
  • NM_001407618.1:c.4185+9C>T
  • NM_001407619.1:c.4185+9C>T
  • NM_001407620.1:c.4185+9C>T
  • NM_001407621.1:c.4185+9C>T
  • NM_001407622.1:c.4185+9C>T
  • NM_001407623.1:c.4185+9C>T
  • NM_001407624.1:c.4185+9C>T
  • NM_001407625.1:c.4185+9C>T
  • NM_001407626.1:c.4185+9C>T
  • NM_001407627.1:c.4182+9C>T
  • NM_001407628.1:c.4182+9C>T
  • NM_001407629.1:c.4182+9C>T
  • NM_001407630.1:c.4182+9C>T
  • NM_001407631.1:c.4182+9C>T
  • NM_001407632.1:c.4182+9C>T
  • NM_001407633.1:c.4182+9C>T
  • NM_001407634.1:c.4182+9C>T
  • NM_001407635.1:c.4182+9C>T
  • NM_001407636.1:c.4182+9C>T
  • NM_001407637.1:c.4182+9C>T
  • NM_001407638.1:c.4182+9C>T
  • NM_001407639.1:c.4185+9C>T
  • NM_001407640.1:c.4185+9C>T
  • NM_001407641.1:c.4185+9C>T
  • NM_001407642.1:c.4185+9C>T
  • NM_001407644.1:c.4182+9C>T
  • NM_001407645.1:c.4182+9C>T
  • NM_001407646.1:c.4176+9C>T
  • NM_001407647.1:c.4176+9C>T
  • NM_001407648.1:c.4062+9C>T
  • NM_001407649.1:c.4059+9C>T
  • NM_001407652.1:c.4185+9C>T
  • NM_001407653.1:c.4107+9C>T
  • NM_001407654.1:c.4107+9C>T
  • NM_001407655.1:c.4107+9C>T
  • NM_001407656.1:c.4107+9C>T
  • NM_001407657.1:c.4107+9C>T
  • NM_001407658.1:c.4107+9C>T
  • NM_001407659.1:c.4104+9C>T
  • NM_001407660.1:c.4104+9C>T
  • NM_001407661.1:c.4104+9C>T
  • NM_001407662.1:c.4104+9C>T
  • NM_001407663.1:c.4107+9C>T
  • NM_001407664.1:c.4062+9C>T
  • NM_001407665.1:c.4062+9C>T
  • NM_001407666.1:c.4062+9C>T
  • NM_001407667.1:c.4062+9C>T
  • NM_001407668.1:c.4062+9C>T
  • NM_001407669.1:c.4062+9C>T
  • NM_001407670.1:c.4059+9C>T
  • NM_001407671.1:c.4059+9C>T
  • NM_001407672.1:c.4059+9C>T
  • NM_001407673.1:c.4059+9C>T
  • NM_001407674.1:c.4062+9C>T
  • NM_001407675.1:c.4062+9C>T
  • NM_001407676.1:c.4062+9C>T
  • NM_001407677.1:c.4062+9C>T
  • NM_001407678.1:c.4062+9C>T
  • NM_001407679.1:c.4062+9C>T
  • NM_001407680.1:c.4062+9C>T
  • NM_001407681.1:c.4062+9C>T
  • NM_001407682.1:c.4062+9C>T
  • NM_001407683.1:c.4062+9C>T
  • NM_001407684.1:c.4185+9C>T
  • NM_001407685.1:c.4059+9C>T
  • NM_001407686.1:c.4059+9C>T
  • NM_001407687.1:c.4059+9C>T
  • NM_001407688.1:c.4059+9C>T
  • NM_001407689.1:c.4059+9C>T
  • NM_001407690.1:c.4059+9C>T
  • NM_001407691.1:c.4059+9C>T
  • NM_001407692.1:c.4044+9C>T
  • NM_001407694.1:c.4044+9C>T
  • NM_001407695.1:c.4044+9C>T
  • NM_001407696.1:c.4044+9C>T
  • NM_001407697.1:c.4044+9C>T
  • NM_001407698.1:c.4044+9C>T
  • NM_001407724.1:c.4044+9C>T
  • NM_001407725.1:c.4044+9C>T
  • NM_001407726.1:c.4044+9C>T
  • NM_001407727.1:c.4044+9C>T
  • NM_001407728.1:c.4044+9C>T
  • NM_001407729.1:c.4044+9C>T
  • NM_001407730.1:c.4044+9C>T
  • NM_001407731.1:c.4044+9C>T
  • NM_001407732.1:c.4044+9C>T
  • NM_001407733.1:c.4044+9C>T
  • NM_001407734.1:c.4044+9C>T
  • NM_001407735.1:c.4044+9C>T
  • NM_001407736.1:c.4044+9C>T
  • NM_001407737.1:c.4044+9C>T
  • NM_001407738.1:c.4044+9C>T
  • NM_001407739.1:c.4044+9C>T
  • NM_001407740.1:c.4041+9C>T
  • NM_001407741.1:c.4041+9C>T
  • NM_001407742.1:c.4041+9C>T
  • NM_001407743.1:c.4041+9C>T
  • NM_001407744.1:c.4041+9C>T
  • NM_001407745.1:c.4041+9C>T
  • NM_001407746.1:c.4041+9C>T
  • NM_001407747.1:c.4041+9C>T
  • NM_001407748.1:c.4041+9C>T
  • NM_001407749.1:c.4041+9C>T
  • NM_001407750.1:c.4044+9C>T
  • NM_001407751.1:c.4044+9C>T
  • NM_001407752.1:c.4044+9C>T
  • NM_001407838.1:c.4041+9C>T
  • NM_001407839.1:c.4041+9C>T
  • NM_001407841.1:c.4041+9C>T
  • NM_001407842.1:c.4041+9C>T
  • NM_001407843.1:c.4041+9C>T
  • NM_001407844.1:c.4041+9C>T
  • NM_001407845.1:c.4041+9C>T
  • NM_001407846.1:c.4041+9C>T
  • NM_001407847.1:c.4041+9C>T
  • NM_001407848.1:c.4041+9C>T
  • NM_001407849.1:c.4041+9C>T
  • NM_001407850.1:c.4044+9C>T
  • NM_001407851.1:c.4044+9C>T
  • NM_001407852.1:c.4044+9C>T
  • NM_001407853.1:c.3972+9C>T
  • NM_001407854.1:c.4185+9C>T
  • NM_001407858.1:c.4185+9C>T
  • NM_001407859.1:c.4185+9C>T
  • NM_001407860.1:c.4182+9C>T
  • NM_001407861.1:c.4182+9C>T
  • NM_001407862.1:c.3984+9C>T
  • NM_001407863.1:c.4062+9C>T
  • NM_001407874.1:c.3981+9C>T
  • NM_001407875.1:c.3981+9C>T
  • NM_001407879.1:c.3975+9C>T
  • NM_001407881.1:c.3975+9C>T
  • NM_001407882.1:c.3975+9C>T
  • NM_001407884.1:c.3975+9C>T
  • NM_001407885.1:c.3975+9C>T
  • NM_001407886.1:c.3975+9C>T
  • NM_001407887.1:c.3975+9C>T
  • NM_001407889.1:c.3975+9C>T
  • NM_001407894.1:c.3972+9C>T
  • NM_001407895.1:c.3972+9C>T
  • NM_001407896.1:c.3972+9C>T
  • NM_001407897.1:c.3972+9C>T
  • NM_001407898.1:c.3972+9C>T
  • NM_001407899.1:c.3972+9C>T
  • NM_001407900.1:c.3975+9C>T
  • NM_001407902.1:c.3975+9C>T
  • NM_001407904.1:c.3975+9C>T
  • NM_001407906.1:c.3975+9C>T
  • NM_001407907.1:c.3975+9C>T
  • NM_001407908.1:c.3975+9C>T
  • NM_001407909.1:c.3975+9C>T
  • NM_001407910.1:c.3975+9C>T
  • NM_001407915.1:c.3972+9C>T
  • NM_001407916.1:c.3972+9C>T
  • NM_001407917.1:c.3972+9C>T
  • NM_001407918.1:c.3972+9C>T
  • NM_001407919.1:c.4062+9C>T
  • NM_001407920.1:c.3921+9C>T
  • NM_001407921.1:c.3921+9C>T
  • NM_001407922.1:c.3921+9C>T
  • NM_001407923.1:c.3921+9C>T
  • NM_001407924.1:c.3921+9C>T
  • NM_001407925.1:c.3921+9C>T
  • NM_001407926.1:c.3921+9C>T
  • NM_001407927.1:c.3921+9C>T
  • NM_001407928.1:c.3921+9C>T
  • NM_001407929.1:c.3921+9C>T
  • NM_001407930.1:c.3918+9C>T
  • NM_001407931.1:c.3918+9C>T
  • NM_001407932.1:c.3918+9C>T
  • NM_001407933.1:c.3921+9C>T
  • NM_001407934.1:c.3918+9C>T
  • NM_001407935.1:c.3921+9C>T
  • NM_001407936.1:c.3918+9C>T
  • NM_001407937.1:c.4062+9C>T
  • NM_001407938.1:c.4062+9C>T
  • NM_001407939.1:c.4062+9C>T
  • NM_001407940.1:c.4059+9C>T
  • NM_001407941.1:c.4059+9C>T
  • NM_001407942.1:c.4044+9C>T
  • NM_001407943.1:c.4041+9C>T
  • NM_001407944.1:c.4044+9C>T
  • NM_001407945.1:c.4044+9C>T
  • NM_001407946.1:c.3852+9C>T
  • NM_001407947.1:c.3852+9C>T
  • NM_001407948.1:c.3852+9C>T
  • NM_001407949.1:c.3852+9C>T
  • NM_001407950.1:c.3852+9C>T
  • NM_001407951.1:c.3852+9C>T
  • NM_001407952.1:c.3852+9C>T
  • NM_001407953.1:c.3852+9C>T
  • NM_001407954.1:c.3849+9C>T
  • NM_001407955.1:c.3849+9C>T
  • NM_001407956.1:c.3849+9C>T
  • NM_001407957.1:c.3852+9C>T
  • NM_001407958.1:c.3849+9C>T
  • NM_001407959.1:c.3804+9C>T
  • NM_001407960.1:c.3804+9C>T
  • NM_001407962.1:c.3801+9C>T
  • NM_001407963.1:c.3804+9C>T
  • NM_001407964.1:c.4041+9C>T
  • NM_001407965.1:c.3681+9C>T
  • NM_001407966.1:c.3297+9C>T
  • NM_001407967.1:c.3297+9C>T
  • NM_001407968.1:c.1581+9C>T
  • NM_001407969.1:c.1581+9C>T
  • NM_001407970.1:c.876+9C>T
  • NM_001407971.1:c.876+9C>T
  • NM_001407972.1:c.873+9C>T
  • NM_001407973.1:c.876+9C>T
  • NM_001407974.1:c.876+9C>T
  • NM_001407975.1:c.876+9C>T
  • NM_001407976.1:c.876+9C>T
  • NM_001407977.1:c.876+9C>T
  • NM_001407978.1:c.876+9C>T
  • NM_001407979.1:c.876+9C>T
  • NM_001407980.1:c.876+9C>T
  • NM_001407981.1:c.876+9C>T
  • NM_001407982.1:c.876+9C>T
  • NM_001407983.1:c.876+9C>T
  • NM_001407984.1:c.873+9C>T
  • NM_001407985.1:c.873+9C>T
  • NM_001407986.1:c.873+9C>T
  • NM_001407990.1:c.876+9C>T
  • NM_001407991.1:c.873+9C>T
  • NM_001407992.1:c.873+9C>T
  • NM_001407993.1:c.876+9C>T
  • NM_001408392.1:c.873+9C>T
  • NM_001408396.1:c.873+9C>T
  • NM_001408397.1:c.873+9C>T
  • NM_001408398.1:c.873+9C>T
  • NM_001408399.1:c.873+9C>T
  • NM_001408400.1:c.873+9C>T
  • NM_001408401.1:c.873+9C>T
  • NM_001408402.1:c.873+9C>T
  • NM_001408403.1:c.876+9C>T
  • NM_001408404.1:c.876+9C>T
  • NM_001408406.1:c.870+9C>T
  • NM_001408407.1:c.873+9C>T
  • NM_001408408.1:c.867+9C>T
  • NM_001408409.1:c.798+9C>T
  • NM_001408410.1:c.735+9C>T
  • NM_001408411.1:c.798+9C>T
  • NM_001408412.1:c.798+9C>T
  • NM_001408413.1:c.795+9C>T
  • NM_001408414.1:c.798+9C>T
  • NM_001408415.1:c.798+9C>T
  • NM_001408416.1:c.795+9C>T
  • NM_001408418.1:c.759+9C>T
  • NM_001408419.1:c.759+9C>T
  • NM_001408420.1:c.759+9C>T
  • NM_001408421.1:c.756+9C>T
  • NM_001408422.1:c.759+9C>T
  • NM_001408423.1:c.759+9C>T
  • NM_001408424.1:c.756+9C>T
  • NM_001408425.1:c.753+9C>T
  • NM_001408426.1:c.753+9C>T
  • NM_001408427.1:c.753+9C>T
  • NM_001408428.1:c.753+9C>T
  • NM_001408429.1:c.753+9C>T
  • NM_001408430.1:c.753+9C>T
  • NM_001408431.1:c.756+9C>T
  • NM_001408432.1:c.750+9C>T
  • NM_001408433.1:c.750+9C>T
  • NM_001408434.1:c.750+9C>T
  • NM_001408435.1:c.750+9C>T
  • NM_001408436.1:c.753+9C>T
  • NM_001408437.1:c.753+9C>T
  • NM_001408438.1:c.753+9C>T
  • NM_001408439.1:c.753+9C>T
  • NM_001408440.1:c.753+9C>T
  • NM_001408441.1:c.753+9C>T
  • NM_001408442.1:c.753+9C>T
  • NM_001408443.1:c.753+9C>T
  • NM_001408444.1:c.753+9C>T
  • NM_001408445.1:c.750+9C>T
  • NM_001408446.1:c.750+9C>T
  • NM_001408447.1:c.750+9C>T
  • NM_001408448.1:c.750+9C>T
  • NM_001408450.1:c.750+9C>T
  • NM_001408451.1:c.741+9C>T
  • NM_001408452.1:c.735+9C>T
  • NM_001408453.1:c.735+9C>T
  • NM_001408454.1:c.735+9C>T
  • NM_001408455.1:c.735+9C>T
  • NM_001408456.1:c.735+9C>T
  • NM_001408457.1:c.735+9C>T
  • NM_001408458.1:c.735+9C>T
  • NM_001408459.1:c.735+9C>T
  • NM_001408460.1:c.735+9C>T
  • NM_001408461.1:c.735+9C>T
  • NM_001408462.1:c.732+9C>T
  • NM_001408463.1:c.732+9C>T
  • NM_001408464.1:c.732+9C>T
  • NM_001408465.1:c.732+9C>T
  • NM_001408466.1:c.735+9C>T
  • NM_001408467.1:c.735+9C>T
  • NM_001408468.1:c.732+9C>T
  • NM_001408469.1:c.735+9C>T
  • NM_001408470.1:c.732+9C>T
  • NM_001408472.1:c.876+9C>T
  • NM_001408473.1:c.873+9C>T
  • NM_001408474.1:c.675+9C>T
  • NM_001408475.1:c.672+9C>T
  • NM_001408476.1:c.675+9C>T
  • NM_001408478.1:c.666+9C>T
  • NM_001408479.1:c.666+9C>T
  • NM_001408480.1:c.666+9C>T
  • NM_001408481.1:c.666+9C>T
  • NM_001408482.1:c.666+9C>T
  • NM_001408483.1:c.666+9C>T
  • NM_001408484.1:c.666+9C>T
  • NM_001408485.1:c.666+9C>T
  • NM_001408489.1:c.666+9C>T
  • NM_001408490.1:c.663+9C>T
  • NM_001408491.1:c.663+9C>T
  • NM_001408492.1:c.666+9C>T
  • NM_001408493.1:c.663+9C>T
  • NM_001408494.1:c.636+9C>T
  • NM_001408495.1:c.633+9C>T
  • NM_001408496.1:c.612+9C>T
  • NM_001408497.1:c.612+9C>T
  • NM_001408498.1:c.612+9C>T
  • NM_001408499.1:c.612+9C>T
  • NM_001408500.1:c.612+9C>T
  • NM_001408501.1:c.612+9C>T
  • NM_001408502.1:c.543+9C>T
  • NM_001408503.1:c.609+9C>T
  • NM_001408504.1:c.609+9C>T
  • NM_001408505.1:c.609+9C>T
  • NM_001408506.1:c.549+9C>T
  • NM_001408507.1:c.549+9C>T
  • NM_001408508.1:c.540+9C>T
  • NM_001408509.1:c.540+9C>T
  • NM_001408510.1:c.495+9C>T
  • NM_001408511.1:c.492+9C>T
  • NM_001408512.1:c.372+9C>T
  • NM_001408513.1:c.666+9C>T
  • NM_001408514.1:c.666+9C>T
  • NM_007294.4:c.4185+9C>TMANE SELECT
  • NM_007297.4:c.4044+9C>T
  • NM_007298.4:c.876+9C>T
  • NM_007299.4:c.876+9C>T
  • NM_007300.4:c.4185+9C>T
  • LRG_292t1:c.4185+9C>T
  • LRG_292:g.127049C>T
  • NC_000017.10:g.41242952G>A
  • NM_007294.3:c.4185+9C>T
  • U14680.1:n.4304+9C>T
Nucleotide change:
IVS12+9C>T
Links:
Breast Cancer Information Core (BIC) (BRCA1): 4304+9&base_change=C to T; dbSNP: rs80358034
NCBI 1000 Genomes Browser:
rs80358034
Molecular consequence:
  • NM_001407571.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407582.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407583.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407585.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407587.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407590.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407591.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407593.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407594.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407596.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407597.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407598.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407602.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407603.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407605.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407610.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407611.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407612.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407613.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407614.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407615.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407616.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407617.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407618.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407619.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407620.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407621.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407622.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407623.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407624.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407625.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407626.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407627.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407628.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407629.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407630.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407631.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407632.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407633.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407634.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407635.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407636.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407637.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407638.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407639.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407640.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407641.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407642.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407644.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407645.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407646.1:c.4176+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407647.1:c.4176+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407648.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407649.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407652.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407653.1:c.4107+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407654.1:c.4107+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407655.1:c.4107+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407656.1:c.4107+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407657.1:c.4107+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407658.1:c.4107+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407659.1:c.4104+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407660.1:c.4104+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407661.1:c.4104+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407662.1:c.4104+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407663.1:c.4107+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407664.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407665.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407666.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407667.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407668.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407669.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407670.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407671.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407672.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407673.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407674.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407675.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407676.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407677.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407678.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407679.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407680.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407681.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407682.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407683.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407684.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407685.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407686.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407687.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407688.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407689.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407690.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407691.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407692.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407694.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407695.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407696.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407697.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407724.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407725.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407727.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407728.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407729.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407730.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407731.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407733.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407734.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407735.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407737.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407739.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407740.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407741.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407743.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407745.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407746.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407748.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407749.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407752.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407838.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407839.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407842.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407843.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407844.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407846.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407847.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407848.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407850.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407851.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407853.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407854.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407858.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407859.1:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407860.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.4182+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407862.1:c.3984+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407863.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407874.1:c.3981+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407875.1:c.3981+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407879.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407882.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407884.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407885.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407886.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407887.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407889.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407894.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407895.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407896.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407897.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407899.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407900.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407904.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407906.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407907.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407908.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407909.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407910.1:c.3975+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407915.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407916.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407917.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407918.1:c.3972+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407919.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407920.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407921.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407922.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407923.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407926.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407927.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407930.1:c.3918+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.3918+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.3918+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407933.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407934.1:c.3918+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407935.1:c.3921+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.3918+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407937.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407938.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407939.1:c.4062+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407940.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.4059+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407942.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407943.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407944.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407946.1:c.3852+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407947.1:c.3852+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407948.1:c.3852+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407949.1:c.3852+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407950.1:c.3852+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407951.1:c.3852+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407952.1:c.3852+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407953.1:c.3852+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407954.1:c.3849+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407955.1:c.3849+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407956.1:c.3849+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407957.1:c.3852+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407958.1:c.3849+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.3804+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407960.1:c.3804+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407962.1:c.3801+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.3804+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407964.1:c.4041+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407965.1:c.3681+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.3297+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.3297+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407968.1:c.1581+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.1581+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.870+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.867+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.798+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.798+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.798+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.795+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.798+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.798+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.795+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.759+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.759+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.759+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.756+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.759+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.759+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.756+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.756+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.750+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.750+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.750+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.750+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.753+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.750+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.750+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.750+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.750+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.750+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.741+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.732+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.732+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.732+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.732+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.732+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.735+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.732+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.873+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.675+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.672+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.675+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.663+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.663+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.663+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.636+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.633+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.612+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.612+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.612+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.612+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.612+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.612+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.543+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.609+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.609+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.609+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.549+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.549+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.540+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.540+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.495+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.492+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.372+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.666+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.4044+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.876+9C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.4185+9C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000605868Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Benign
(May 11, 2023) 		unknownclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL, Fox SB, Mitchell G, Scott RJ, Beshay V, Wong SQ; kConFab Investigators., Dobrovic A.

BMC Cancer. 2011 Jun 24;11:265. doi: 10.1186/1471-2407-11-265.

PubMed [citation]
PMID:
21702907
PMCID:
PMC3146935

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV; IARC Unclassified Genetic Variants Working Group..

Hum Mutat. 2008 Nov;29(11):1282-91. doi: 10.1002/humu.20880.

PubMed [citation]
PMID:
18951446
PMCID:
PMC3075918
See all PubMed Citations (5)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000605868.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024