NM_007294.4(BRCA1):c.4675+11A>G AND not specified

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Sep 11, 2023
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:: RCV000429635.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.4675+11A>G]

NM_007294.4(BRCA1):c.4675+11A>G

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.4675+11A>G

HGVS:

NC_000017.11:g.43074320T>C
NG_005905.2:g.143664A>G
NM_001407571.1:c.4462+11A>G
NM_001407581.1:c.4741+11A>G
NM_001407582.1:c.4741+11A>G
NM_001407583.1:c.4738+11A>G
NM_001407585.1:c.4738+11A>G
NM_001407587.1:c.4738+11A>G
NM_001407590.1:c.4735+11A>G
NM_001407591.1:c.4735+11A>G
NM_001407593.1:c.4675+11A>G
NM_001407594.1:c.4675+11A>G
NM_001407596.1:c.4675+11A>G
NM_001407597.1:c.4675+11A>G
NM_001407598.1:c.4675+11A>G
NM_001407602.1:c.4675+11A>G
NM_001407603.1:c.4675+11A>G
NM_001407605.1:c.4675+11A>G
NM_001407610.1:c.4672+11A>G
NM_001407611.1:c.4672+11A>G
NM_001407612.1:c.4672+11A>G
NM_001407613.1:c.4672+11A>G
NM_001407614.1:c.4672+11A>G
NM_001407615.1:c.4672+11A>G
NM_001407616.1:c.4672+11A>G
NM_001407617.1:c.4672+11A>G
NM_001407618.1:c.4672+11A>G
NM_001407619.1:c.4672+11A>G
NM_001407620.1:c.4672+11A>G
NM_001407621.1:c.4672+11A>G
NM_001407622.1:c.4672+11A>G
NM_001407623.1:c.4672+11A>G
NM_001407624.1:c.4672+11A>G
NM_001407625.1:c.4672+11A>G
NM_001407626.1:c.4672+11A>G
NM_001407627.1:c.4669+11A>G
NM_001407628.1:c.4669+11A>G
NM_001407629.1:c.4669+11A>G
NM_001407630.1:c.4669+11A>G
NM_001407631.1:c.4669+11A>G
NM_001407632.1:c.4669+11A>G
NM_001407633.1:c.4669+11A>G
NM_001407634.1:c.4669+11A>G
NM_001407635.1:c.4669+11A>G
NM_001407636.1:c.4669+11A>G
NM_001407637.1:c.4669+11A>G
NM_001407638.1:c.4669+11A>G
NM_001407639.1:c.4669+11A>G
NM_001407640.1:c.4669+11A>G
NM_001407641.1:c.4669+11A>G
NM_001407642.1:c.4669+11A>G
NM_001407644.1:c.4666+11A>G
NM_001407645.1:c.4666+11A>G
NM_001407646.1:c.4663+11A>G
NM_001407647.1:c.4660+11A>G
NM_001407648.1:c.4618+11A>G
NM_001407649.1:c.4615+11A>G
NM_001407652.1:c.4675+11A>G
NM_001407653.1:c.4597+11A>G
NM_001407654.1:c.4597+11A>G
NM_001407655.1:c.4597+11A>G
NM_001407656.1:c.4594+11A>G
NM_001407657.1:c.4594+11A>G
NM_001407658.1:c.4594+11A>G
NM_001407659.1:c.4591+11A>G
NM_001407660.1:c.4591+11A>G
NM_001407661.1:c.4591+11A>G
NM_001407662.1:c.4591+11A>G
NM_001407663.1:c.4591+11A>G
NM_001407664.1:c.4552+11A>G
NM_001407665.1:c.4552+11A>G
NM_001407666.1:c.4552+11A>G
NM_001407667.1:c.4552+11A>G
NM_001407668.1:c.4552+11A>G
NM_001407669.1:c.4552+11A>G
NM_001407670.1:c.4549+11A>G
NM_001407671.1:c.4549+11A>G
NM_001407672.1:c.4549+11A>G
NM_001407673.1:c.4549+11A>G
NM_001407674.1:c.4549+11A>G
NM_001407675.1:c.4549+11A>G
NM_001407676.1:c.4549+11A>G
NM_001407677.1:c.4549+11A>G
NM_001407678.1:c.4549+11A>G
NM_001407679.1:c.4549+11A>G
NM_001407680.1:c.4549+11A>G
NM_001407681.1:c.4546+11A>G
NM_001407682.1:c.4546+11A>G
NM_001407683.1:c.4546+11A>G
NM_001407684.1:c.4675+11A>G
NM_001407685.1:c.4546+11A>G
NM_001407686.1:c.4546+11A>G
NM_001407687.1:c.4546+11A>G
NM_001407688.1:c.4546+11A>G
NM_001407689.1:c.4546+11A>G
NM_001407690.1:c.4543+11A>G
NM_001407691.1:c.4543+11A>G
NM_001407692.1:c.4534+11A>G
NM_001407694.1:c.4534+11A>G
NM_001407695.1:c.4534+11A>G
NM_001407696.1:c.4534+11A>G
NM_001407697.1:c.4534+11A>G
NM_001407698.1:c.4534+11A>G
NM_001407724.1:c.4534+11A>G
NM_001407725.1:c.4534+11A>G
NM_001407726.1:c.4534+11A>G
NM_001407727.1:c.4534+11A>G
NM_001407728.1:c.4534+11A>G
NM_001407729.1:c.4534+11A>G
NM_001407730.1:c.4534+11A>G
NM_001407731.1:c.4534+11A>G
NM_001407732.1:c.4531+11A>G
NM_001407733.1:c.4531+11A>G
NM_001407734.1:c.4531+11A>G
NM_001407735.1:c.4531+11A>G
NM_001407736.1:c.4531+11A>G
NM_001407737.1:c.4531+11A>G
NM_001407738.1:c.4531+11A>G
NM_001407739.1:c.4531+11A>G
NM_001407740.1:c.4531+11A>G
NM_001407741.1:c.4531+11A>G
NM_001407742.1:c.4531+11A>G
NM_001407743.1:c.4531+11A>G
NM_001407744.1:c.4531+11A>G
NM_001407745.1:c.4531+11A>G
NM_001407746.1:c.4531+11A>G
NM_001407747.1:c.4531+11A>G
NM_001407748.1:c.4531+11A>G
NM_001407749.1:c.4531+11A>G
NM_001407750.1:c.4531+11A>G
NM_001407751.1:c.4531+11A>G
NM_001407752.1:c.4531+11A>G
NM_001407838.1:c.4528+11A>G
NM_001407839.1:c.4528+11A>G
NM_001407841.1:c.4528+11A>G
NM_001407842.1:c.4528+11A>G
NM_001407843.1:c.4528+11A>G
NM_001407844.1:c.4528+11A>G
NM_001407845.1:c.4528+11A>G
NM_001407846.1:c.4528+11A>G
NM_001407847.1:c.4528+11A>G
NM_001407848.1:c.4528+11A>G
NM_001407849.1:c.4528+11A>G
NM_001407850.1:c.4528+11A>G
NM_001407851.1:c.4528+11A>G
NM_001407852.1:c.4528+11A>G
NM_001407853.1:c.4528+11A>G
NM_001407854.1:c.4675+11A>G
NM_001407858.1:c.4672+11A>G
NM_001407859.1:c.4672+11A>G
NM_001407860.1:c.4672+11A>G
NM_001407861.1:c.4669+11A>G
NM_001407862.1:c.4474+11A>G
NM_001407863.1:c.4549+11A>G
NM_001407874.1:c.4468+11A>G
NM_001407875.1:c.4468+11A>G
NM_001407879.1:c.4465+11A>G
NM_001407881.1:c.4465+11A>G
NM_001407882.1:c.4465+11A>G
NM_001407884.1:c.4465+11A>G
NM_001407885.1:c.4465+11A>G
NM_001407886.1:c.4465+11A>G
NM_001407887.1:c.4465+11A>G
NM_001407889.1:c.4465+11A>G
NM_001407894.1:c.4462+11A>G
NM_001407895.1:c.4462+11A>G
NM_001407896.1:c.4462+11A>G
NM_001407897.1:c.4462+11A>G
NM_001407898.1:c.4462+11A>G
NM_001407899.1:c.4462+11A>G
NM_001407900.1:c.4462+11A>G
NM_001407902.1:c.4462+11A>G
NM_001407904.1:c.4462+11A>G
NM_001407906.1:c.4462+11A>G
NM_001407907.1:c.4462+11A>G
NM_001407908.1:c.4462+11A>G
NM_001407909.1:c.4462+11A>G
NM_001407910.1:c.4462+11A>G
NM_001407915.1:c.4459+11A>G
NM_001407916.1:c.4459+11A>G
NM_001407917.1:c.4459+11A>G
NM_001407918.1:c.4459+11A>G
NM_001407919.1:c.4552+11A>G
NM_001407920.1:c.4411+11A>G
NM_001407921.1:c.4411+11A>G
NM_001407922.1:c.4411+11A>G
NM_001407923.1:c.4411+11A>G
NM_001407924.1:c.4411+11A>G
NM_001407925.1:c.4411+11A>G
NM_001407926.1:c.4411+11A>G
NM_001407927.1:c.4408+11A>G
NM_001407928.1:c.4408+11A>G
NM_001407929.1:c.4408+11A>G
NM_001407930.1:c.4408+11A>G
NM_001407931.1:c.4408+11A>G
NM_001407932.1:c.4408+11A>G
NM_001407933.1:c.4408+11A>G
NM_001407934.1:c.4405+11A>G
NM_001407935.1:c.4405+11A>G
NM_001407936.1:c.4405+11A>G
NM_001407937.1:c.4552+11A>G
NM_001407938.1:c.4552+11A>G
NM_001407939.1:c.4549+11A>G
NM_001407940.1:c.4549+11A>G
NM_001407941.1:c.4546+11A>G
NM_001407942.1:c.4534+11A>G
NM_001407943.1:c.4531+11A>G
NM_001407944.1:c.4531+11A>G
NM_001407945.1:c.4531+11A>G
NM_001407946.1:c.4342+11A>G
NM_001407947.1:c.4342+11A>G
NM_001407948.1:c.4342+11A>G
NM_001407949.1:c.4342+11A>G
NM_001407950.1:c.4339+11A>G
NM_001407951.1:c.4339+11A>G
NM_001407952.1:c.4339+11A>G
NM_001407953.1:c.4339+11A>G
NM_001407954.1:c.4339+11A>G
NM_001407955.1:c.4339+11A>G
NM_001407956.1:c.4336+11A>G
NM_001407957.1:c.4336+11A>G
NM_001407958.1:c.4336+11A>G
NM_001407959.1:c.4294+11A>G
NM_001407960.1:c.4291+11A>G
NM_001407962.1:c.4291+11A>G
NM_001407963.1:c.4288+11A>G
NM_001407964.1:c.4214-3082A>G
NM_001407965.1:c.4168+11A>G
NM_001407966.1:c.3787+11A>G
NM_001407967.1:c.3784+11A>G
NM_001407968.1:c.2071+11A>G
NM_001407969.1:c.2068+11A>G
NM_001407970.1:c.1432+11A>G
NM_001407971.1:c.1432+11A>G
NM_001407972.1:c.1429+11A>G
NM_001407973.1:c.1366+11A>G
NM_001407974.1:c.1366+11A>G
NM_001407975.1:c.1366+11A>G
NM_001407976.1:c.1366+11A>G
NM_001407977.1:c.1366+11A>G
NM_001407978.1:c.1366+11A>G
NM_001407979.1:c.1363+11A>G
NM_001407980.1:c.1363+11A>G
NM_001407981.1:c.1363+11A>G
NM_001407982.1:c.1363+11A>G
NM_001407983.1:c.1363+11A>G
NM_001407984.1:c.1363+11A>G
NM_001407985.1:c.1363+11A>G
NM_001407986.1:c.1363+11A>G
NM_001407990.1:c.1363+11A>G
NM_001407991.1:c.1363+11A>G
NM_001407992.1:c.1363+11A>G
NM_001407993.1:c.1363+11A>G
NM_001408392.1:c.1360+11A>G
NM_001408396.1:c.1360+11A>G
NM_001408397.1:c.1360+11A>G
NM_001408398.1:c.1360+11A>G
NM_001408399.1:c.1360+11A>G
NM_001408400.1:c.1360+11A>G
NM_001408401.1:c.1360+11A>G
NM_001408402.1:c.1360+11A>G
NM_001408403.1:c.1360+11A>G
NM_001408404.1:c.1360+11A>G
NM_001408406.1:c.1357+11A>G
NM_001408407.1:c.1357+11A>G
NM_001408408.1:c.1357+11A>G
NM_001408409.1:c.1354+11A>G
NM_001408410.1:c.1291+11A>G
NM_001408411.1:c.1288+11A>G
NM_001408412.1:c.1285+11A>G
NM_001408413.1:c.1285+11A>G
NM_001408414.1:c.1285+11A>G
NM_001408415.1:c.1285+11A>G
NM_001408416.1:c.1285+11A>G
NM_001408418.1:c.1249+11A>G
NM_001408419.1:c.1249+11A>G
NM_001408420.1:c.1249+11A>G
NM_001408421.1:c.1246+11A>G
NM_001408422.1:c.1246+11A>G
NM_001408423.1:c.1246+11A>G
NM_001408424.1:c.1246+11A>G
NM_001408425.1:c.1243+11A>G
NM_001408426.1:c.1243+11A>G
NM_001408427.1:c.1243+11A>G
NM_001408428.1:c.1243+11A>G
NM_001408429.1:c.1243+11A>G
NM_001408430.1:c.1243+11A>G
NM_001408431.1:c.1243+11A>G
NM_001408432.1:c.1240+11A>G
NM_001408433.1:c.1240+11A>G
NM_001408434.1:c.1240+11A>G
NM_001408435.1:c.1240+11A>G
NM_001408436.1:c.1240+11A>G
NM_001408437.1:c.1240+11A>G
NM_001408438.1:c.1240+11A>G
NM_001408439.1:c.1240+11A>G
NM_001408440.1:c.1240+11A>G
NM_001408441.1:c.1240+11A>G
NM_001408442.1:c.1240+11A>G
NM_001408443.1:c.1240+11A>G
NM_001408444.1:c.1240+11A>G
NM_001408445.1:c.1237+11A>G
NM_001408446.1:c.1237+11A>G
NM_001408447.1:c.1237+11A>G
NM_001408448.1:c.1237+11A>G
NM_001408450.1:c.1237+11A>G
NM_001408451.1:c.1231+11A>G
NM_001408452.1:c.1225+11A>G
NM_001408453.1:c.1225+11A>G
NM_001408454.1:c.1225+11A>G
NM_001408455.1:c.1225+11A>G
NM_001408456.1:c.1225+11A>G
NM_001408457.1:c.1225+11A>G
NM_001408458.1:c.1222+11A>G
NM_001408459.1:c.1222+11A>G
NM_001408460.1:c.1222+11A>G
NM_001408461.1:c.1222+11A>G
NM_001408462.1:c.1222+11A>G
NM_001408463.1:c.1222+11A>G
NM_001408464.1:c.1222+11A>G
NM_001408465.1:c.1222+11A>G
NM_001408466.1:c.1222+11A>G
NM_001408467.1:c.1222+11A>G
NM_001408468.1:c.1219+11A>G
NM_001408469.1:c.1219+11A>G
NM_001408470.1:c.1219+11A>G
NM_001408472.1:c.1363+11A>G
NM_001408473.1:c.1360+11A>G
NM_001408474.1:c.1165+11A>G
NM_001408475.1:c.1162+11A>G
NM_001408476.1:c.1162+11A>G
NM_001408478.1:c.1156+11A>G
NM_001408479.1:c.1156+11A>G
NM_001408480.1:c.1156+11A>G
NM_001408481.1:c.1153+11A>G
NM_001408482.1:c.1153+11A>G
NM_001408483.1:c.1153+11A>G
NM_001408484.1:c.1153+11A>G
NM_001408485.1:c.1153+11A>G
NM_001408489.1:c.1153+11A>G
NM_001408490.1:c.1153+11A>G
NM_001408491.1:c.1153+11A>G
NM_001408492.1:c.1150+11A>G
NM_001408493.1:c.1150+11A>G
NM_001408494.1:c.1126+11A>G
NM_001408495.1:c.1120+11A>G
NM_001408496.1:c.1102+11A>G
NM_001408497.1:c.1102+11A>G
NM_001408498.1:c.1102+11A>G
NM_001408499.1:c.1102+11A>G
NM_001408500.1:c.1102+11A>G
NM_001408501.1:c.1102+11A>G
NM_001408502.1:c.1099+11A>G
NM_001408503.1:c.1099+11A>G
NM_001408504.1:c.1099+11A>G
NM_001408505.1:c.1096+11A>G
NM_001408506.1:c.1039+11A>G
NM_001408507.1:c.1036+11A>G
NM_001408508.1:c.1027+11A>G
NM_001408509.1:c.1024+11A>G
NM_001408510.1:c.985+11A>G
NM_001408511.1:c.982+11A>G
NM_001408512.1:c.862+11A>G
NM_001408513.1:c.836-3082A>G
NM_001408514.1:c.838+8084A>G
NM_007294.4:c.4675+11A>GMANE SELECT
NM_007297.4:c.4534+11A>G
NM_007298.4:c.1363+11A>G
NM_007299.4:c.1363+11A>G
NM_007300.4:c.4738+11A>G
LRG_292t1:c.4675+11A>G
LRG_292:g.143664A>G
NC_000017.10:g.41226337T>C
NM_007294.3:c.4675+11A>G

Links:

dbSNP: rs750095985

NCBI 1000 Genomes Browser:

rs750095985

Molecular consequence:

NM_001407571.1:c.4462+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.4741+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407582.1:c.4741+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407583.1:c.4738+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407585.1:c.4738+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407587.1:c.4738+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407590.1:c.4735+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407591.1:c.4735+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407593.1:c.4675+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407594.1:c.4675+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407596.1:c.4675+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407597.1:c.4675+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407598.1:c.4675+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407602.1:c.4675+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407603.1:c.4675+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407605.1:c.4675+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407610.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407611.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407612.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407613.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407614.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407615.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407616.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407617.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407618.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407619.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407620.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407621.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407622.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407623.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407624.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407625.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407626.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407627.1:c.4669+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407628.1:c.4669+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407629.1:c.4669+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407630.1:c.4669+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407631.1:c.4669+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407632.1:c.4669+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407633.1:c.4669+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407634.1:c.4669+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407635.1:c.4669+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407636.1:c.4669+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407637.1:c.4669+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407638.1:c.4669+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407639.1:c.4669+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407640.1:c.4669+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407641.1:c.4669+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407642.1:c.4669+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407644.1:c.4666+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407645.1:c.4666+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407646.1:c.4663+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407647.1:c.4660+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407648.1:c.4618+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407649.1:c.4615+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407652.1:c.4675+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407653.1:c.4597+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407654.1:c.4597+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407655.1:c.4597+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407656.1:c.4594+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407657.1:c.4594+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407658.1:c.4594+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407659.1:c.4591+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407660.1:c.4591+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407661.1:c.4591+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407662.1:c.4591+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407663.1:c.4591+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407664.1:c.4552+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407665.1:c.4552+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407666.1:c.4552+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407667.1:c.4552+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407668.1:c.4552+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407669.1:c.4552+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407670.1:c.4549+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407671.1:c.4549+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407672.1:c.4549+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407673.1:c.4549+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407674.1:c.4549+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407675.1:c.4549+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407676.1:c.4549+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407677.1:c.4549+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407678.1:c.4549+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407679.1:c.4549+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407680.1:c.4549+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407681.1:c.4546+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407682.1:c.4546+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407683.1:c.4546+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407684.1:c.4675+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407685.1:c.4546+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407686.1:c.4546+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407687.1:c.4546+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407688.1:c.4546+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407689.1:c.4546+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407690.1:c.4543+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407691.1:c.4543+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407692.1:c.4534+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407694.1:c.4534+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407695.1:c.4534+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407696.1:c.4534+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407697.1:c.4534+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.4534+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407724.1:c.4534+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407725.1:c.4534+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.4534+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407727.1:c.4534+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407728.1:c.4534+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407729.1:c.4534+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407730.1:c.4534+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407731.1:c.4534+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407733.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407734.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407735.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407737.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407739.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407740.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407741.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407743.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407745.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407746.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407748.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407749.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407752.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407838.1:c.4528+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407839.1:c.4528+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407841.1:c.4528+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407842.1:c.4528+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407843.1:c.4528+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407844.1:c.4528+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.4528+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407846.1:c.4528+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407847.1:c.4528+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407848.1:c.4528+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.4528+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407850.1:c.4528+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407851.1:c.4528+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.4528+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407853.1:c.4528+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407854.1:c.4675+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407858.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407859.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407860.1:c.4672+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407861.1:c.4669+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407862.1:c.4474+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407863.1:c.4549+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407874.1:c.4468+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407875.1:c.4468+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407879.1:c.4465+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.4465+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407882.1:c.4465+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407884.1:c.4465+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407885.1:c.4465+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407886.1:c.4465+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407887.1:c.4465+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407889.1:c.4465+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407894.1:c.4462+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407895.1:c.4462+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407896.1:c.4462+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407897.1:c.4462+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.4462+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407899.1:c.4462+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407900.1:c.4462+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.4462+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407904.1:c.4462+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407906.1:c.4462+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407907.1:c.4462+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407908.1:c.4462+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407909.1:c.4462+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407910.1:c.4462+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407915.1:c.4459+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407916.1:c.4459+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407917.1:c.4459+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407918.1:c.4459+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407919.1:c.4552+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407920.1:c.4411+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407921.1:c.4411+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407922.1:c.4411+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407923.1:c.4411+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.4411+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.4411+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407926.1:c.4411+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407927.1:c.4408+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.4408+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.4408+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407930.1:c.4408+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.4408+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.4408+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407933.1:c.4408+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407934.1:c.4405+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407935.1:c.4405+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.4405+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407937.1:c.4552+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407938.1:c.4552+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407939.1:c.4549+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407940.1:c.4549+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407941.1:c.4546+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407942.1:c.4534+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407943.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407944.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.4531+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407946.1:c.4342+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407947.1:c.4342+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407948.1:c.4342+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407949.1:c.4342+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407950.1:c.4339+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407951.1:c.4339+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407952.1:c.4339+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407953.1:c.4339+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407954.1:c.4339+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407955.1:c.4339+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407956.1:c.4336+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407957.1:c.4336+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407958.1:c.4336+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.4294+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407960.1:c.4291+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407962.1:c.4291+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.4288+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407964.1:c.4214-3082A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407965.1:c.4168+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.3787+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.3784+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407968.1:c.2071+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.2068+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.1432+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.1432+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.1429+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.1366+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.1366+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.1366+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.1366+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.1366+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.1366+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.1363+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.1363+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.1363+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.1363+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.1363+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.1363+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.1363+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.1363+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.1363+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.1363+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.1363+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.1363+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.1360+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.1360+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.1360+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.1360+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.1360+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.1360+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.1360+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.1360+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.1360+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.1360+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.1357+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.1357+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.1357+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.1354+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.1291+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.1288+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.1285+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.1285+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.1285+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.1285+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.1285+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.1249+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.1249+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.1249+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.1246+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.1246+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.1246+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.1246+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.1243+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.1243+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.1243+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.1243+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.1243+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.1243+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.1243+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.1240+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.1240+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.1240+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.1240+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.1240+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.1240+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.1240+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.1240+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.1240+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.1240+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.1240+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.1240+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.1240+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.1237+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.1237+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.1237+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.1237+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.1237+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.1231+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.1225+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.1225+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.1225+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.1225+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.1225+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.1225+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.1222+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.1222+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.1222+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.1222+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.1222+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.1222+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.1222+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.1222+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.1222+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.1222+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.1219+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.1219+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.1219+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.1363+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.1360+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.1165+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.1162+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.1162+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.1156+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.1156+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.1156+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.1153+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.1153+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.1153+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.1153+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.1153+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.1153+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.1153+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.1153+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.1150+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.1150+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.1126+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.1120+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.1102+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.1102+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.1102+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.1102+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.1102+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.1102+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.1099+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.1099+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.1099+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.1096+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.1039+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.1036+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.1027+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.1024+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.985+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.982+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.862+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.836-3082A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.838+8084A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007294.4:c.4675+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.4534+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.1363+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.1363+11A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007300.4:c.4738+11A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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interferon omega-1 precursor [Bos taurus]
interferon omega-1 precursor [Bos taurus]
gi|27819618|ref|NP_776776.1|

Protein
RecName: Full=V-type proton ATPase catalytic subunit A; Short=V-ATPase subunit A...
RecName: Full=V-type proton ATPase catalytic subunit A; Short=V-ATPase subunit A; AltName: Full=V-ATPase 69 kDa subunit; AltName: Full=Vacuolar ATPase isoform VA68; AltName: Full=Vacuolar proton pump subunit alpha
gi|22096378|sp|P38606.2|VATA_HUMAN

Protein
Phocaeicola vulgatus strain MSK.8.34 NODE_2578_length_367_cov_179.558, whole gen...
Phocaeicola vulgatus strain MSK.8.34 NODE_2578_length_367_cov_179.558, whole genome shotgun sequence
gi|2059144976|ref|NZ_JAHPXT01000022 gnl|WGS:NZ_JAHPXT01|NODE_2578_length_367_cov_179.558

Nucleotide
Sex disparities in influenza: a multiscale network analysis (Female ferrets)
Sex disparities in influenza: a multiscale network analysis (Female ferrets)
Sex disparities in influenza: a multiscale network analysis (Female ferrets)

BioProject
RNASEL ribonuclease L [Homo sapiens]
RNASEL ribonuclease L [Homo sapiens]
Gene ID:6041

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000512311	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (Nov 14, 2016)	germline	clinical testing	Citation Link,
SCV004099715	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Sep 11, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000512311

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(Nov 14, 2016)

germline

clinical testing

Citation Link,

SCV004099715

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely benign
(Sep 11, 2023)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA.

Quiles F, Menéndez M, Tornero E, del Valle J, Teulé À, Palanca S, Izquierdo A, Gómez C, Campos O, Santamaria R, Brunet J, Capellá G, Feliubadaló L, Lázaro C.

Breast Cancer Res Treat. 2016 Jan;155(2):253-60. doi: 10.1007/s10549-015-3676-9. Epub 2016 Jan 16.

PubMed [citation]

PMID:: 26780556

Details of each submission

From GeneDx, SCV000512311.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004099715.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

Variant summary: BRCA1 c.4675+11A>G alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2e-05 in 251008 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, c.4675+11A>G has not been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 26780556). Five submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine