NM_007294.4(BRCA1):c.81-14C>T AND not specified

Germline classification:: Benign/Likely benign (9 submissions)
Last evaluated:: Aug 15, 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:: RCV000123875.20

Allele description [Variation Report for NM_007294.4(BRCA1):c.81-14C>T]

NM_007294.4(BRCA1):c.81-14C>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.81-14C>T

HGVS:

NC_000017.11:g.43115793G>A
NG_005905.2:g.102191C>T
NM_001407571.1:c.-108-14C>T
NM_001407581.1:c.81-14C>T
NM_001407582.1:c.81-14C>T
NM_001407583.1:c.81-14C>T
NM_001407585.1:c.81-14C>T
NM_001407587.1:c.81-14C>T
NM_001407590.1:c.81-14C>T
NM_001407591.1:c.81-14C>T
NM_001407593.1:c.81-14C>T
NM_001407594.1:c.81-14C>T
NM_001407596.1:c.81-14C>T
NM_001407597.1:c.81-14C>T
NM_001407598.1:c.81-14C>T
NM_001407602.1:c.81-14C>T
NM_001407603.1:c.81-14C>T
NM_001407605.1:c.81-14C>T
NM_001407610.1:c.81-14C>T
NM_001407611.1:c.81-14C>T
NM_001407612.1:c.81-14C>T
NM_001407613.1:c.81-14C>T
NM_001407614.1:c.81-14C>T
NM_001407615.1:c.81-14C>T
NM_001407616.1:c.81-14C>T
NM_001407617.1:c.81-14C>T
NM_001407618.1:c.81-14C>T
NM_001407619.1:c.81-14C>T
NM_001407620.1:c.81-14C>T
NM_001407621.1:c.81-14C>T
NM_001407622.1:c.81-14C>T
NM_001407623.1:c.81-14C>T
NM_001407624.1:c.81-14C>T
NM_001407625.1:c.81-14C>T
NM_001407626.1:c.81-14C>T
NM_001407627.1:c.81-14C>T
NM_001407628.1:c.81-14C>T
NM_001407629.1:c.81-14C>T
NM_001407630.1:c.81-14C>T
NM_001407631.1:c.81-14C>T
NM_001407632.1:c.81-14C>T
NM_001407633.1:c.81-14C>T
NM_001407634.1:c.81-14C>T
NM_001407635.1:c.81-14C>T
NM_001407636.1:c.81-14C>T
NM_001407637.1:c.81-14C>T
NM_001407638.1:c.81-14C>T
NM_001407639.1:c.81-14C>T
NM_001407640.1:c.81-14C>T
NM_001407641.1:c.81-14C>T
NM_001407642.1:c.81-14C>T
NM_001407644.1:c.81-14C>T
NM_001407645.1:c.81-14C>T
NM_001407646.1:c.81-14C>T
NM_001407647.1:c.81-14C>T
NM_001407648.1:c.81-14C>T
NM_001407649.1:c.81-14C>T
NM_001407652.1:c.81-14C>T
NM_001407653.1:c.81-14C>T
NM_001407654.1:c.81-14C>T
NM_001407655.1:c.81-14C>T
NM_001407656.1:c.81-14C>T
NM_001407657.1:c.81-14C>T
NM_001407658.1:c.81-14C>T
NM_001407659.1:c.81-14C>T
NM_001407660.1:c.81-14C>T
NM_001407661.1:c.81-14C>T
NM_001407662.1:c.81-14C>T
NM_001407663.1:c.81-14C>T
NM_001407664.1:c.81-14C>T
NM_001407665.1:c.81-14C>T
NM_001407666.1:c.81-14C>T
NM_001407667.1:c.81-14C>T
NM_001407668.1:c.81-14C>T
NM_001407669.1:c.81-14C>T
NM_001407670.1:c.81-14C>T
NM_001407671.1:c.81-14C>T
NM_001407672.1:c.81-14C>T
NM_001407673.1:c.81-14C>T
NM_001407674.1:c.81-14C>T
NM_001407675.1:c.81-14C>T
NM_001407676.1:c.81-14C>T
NM_001407677.1:c.81-14C>T
NM_001407678.1:c.81-14C>T
NM_001407679.1:c.81-14C>T
NM_001407680.1:c.81-14C>T
NM_001407681.1:c.81-14C>T
NM_001407682.1:c.81-14C>T
NM_001407683.1:c.81-14C>T
NM_001407684.1:c.81-14C>T
NM_001407685.1:c.81-14C>T
NM_001407686.1:c.81-14C>T
NM_001407687.1:c.81-14C>T
NM_001407688.1:c.81-14C>T
NM_001407689.1:c.81-14C>T
NM_001407690.1:c.81-14C>T
NM_001407691.1:c.81-14C>T
NM_001407692.1:c.-7-9260C>T
NM_001407694.1:c.-177-14C>T
NM_001407695.1:c.-181-14C>T
NM_001407696.1:c.-177-14C>T
NM_001407697.1:c.-61-14C>T
NM_001407698.1:c.-8+8224C>T
NM_001407724.1:c.-177-14C>T
NM_001407725.1:c.-61-14C>T
NM_001407726.1:c.-8+5765C>T
NM_001407727.1:c.-177-14C>T
NM_001407728.1:c.-61-14C>T
NM_001407729.1:c.-61-14C>T
NM_001407730.1:c.-61-14C>T
NM_001407731.1:c.-177-14C>T
NM_001407732.1:c.-8+8224C>T
NM_001407733.1:c.-177-14C>T
NM_001407734.1:c.-61-14C>T
NM_001407735.1:c.-61-14C>T
NM_001407736.1:c.-8+8224C>T
NM_001407737.1:c.-61-14C>T
NM_001407738.1:c.-8+8224C>T
NM_001407739.1:c.-61-14C>T
NM_001407740.1:c.-61-14C>T
NM_001407741.1:c.-61-14C>T
NM_001407742.1:c.-8+8224C>T
NM_001407743.1:c.-61-14C>T
NM_001407744.1:c.-8+8224C>T
NM_001407745.1:c.-61-14C>T
NM_001407746.1:c.-177-14C>T
NM_001407747.1:c.-7-9260C>T
NM_001407748.1:c.-61-14C>T
NM_001407749.1:c.-177-14C>T
NM_001407750.1:c.-8+8224C>T
NM_001407751.1:c.-8+5765C>T
NM_001407752.1:c.-61-14C>T
NM_001407838.1:c.-61-14C>T
NM_001407839.1:c.-61-14C>T
NM_001407841.1:c.-57-14C>T
NM_001407842.1:c.-177-14C>T
NM_001407843.1:c.-177-14C>T
NM_001407844.1:c.-61-14C>T
NM_001407845.1:c.-8+8224C>T
NM_001407846.1:c.-61-14C>T
NM_001407847.1:c.-61-14C>T
NM_001407848.1:c.-61-14C>T
NM_001407849.1:c.-8+8224C>T
NM_001407850.1:c.-61-14C>T
NM_001407851.1:c.-61-14C>T
NM_001407852.1:c.-8+8224C>T
NM_001407853.1:c.-108-14C>T
NM_001407854.1:c.81-14C>T
NM_001407858.1:c.81-14C>T
NM_001407859.1:c.81-14C>T
NM_001407860.1:c.81-14C>T
NM_001407861.1:c.81-14C>T
NM_001407862.1:c.81-14C>T
NM_001407863.1:c.81-14C>T
NM_001407874.1:c.81-14C>T
NM_001407875.1:c.81-14C>T
NM_001407879.1:c.-108-14C>T
NM_001407881.1:c.-55+8224C>T
NM_001407882.1:c.-108-14C>T
NM_001407884.1:c.-108-14C>T
NM_001407885.1:c.-108-14C>T
NM_001407886.1:c.-108-14C>T
NM_001407887.1:c.-108-14C>T
NM_001407889.1:c.-224-14C>T
NM_001407894.1:c.-108-14C>T
NM_001407895.1:c.-108-14C>T
NM_001407896.1:c.-108-14C>T
NM_001407897.1:c.-108-14C>T
NM_001407898.1:c.-55+8224C>T
NM_001407899.1:c.-108-14C>T
NM_001407900.1:c.-224-14C>T
NM_001407902.1:c.-55+8224C>T
NM_001407904.1:c.-108-14C>T
NM_001407906.1:c.-108-14C>T
NM_001407907.1:c.-108-14C>T
NM_001407908.1:c.-108-14C>T
NM_001407909.1:c.-108-14C>T
NM_001407910.1:c.-108-14C>T
NM_001407915.1:c.-108-14C>T
NM_001407916.1:c.-108-14C>T
NM_001407917.1:c.-108-14C>T
NM_001407918.1:c.-108-14C>T
NM_001407919.1:c.81-14C>T
NM_001407920.1:c.-61-14C>T
NM_001407921.1:c.-61-14C>T
NM_001407922.1:c.-61-14C>T
NM_001407923.1:c.-61-14C>T
NM_001407924.1:c.-8+8224C>T
NM_001407925.1:c.-8+8224C>T
NM_001407926.1:c.-61-14C>T
NM_001407927.1:c.-61-14C>T
NM_001407928.1:c.-8+8224C>T
NM_001407929.1:c.-8+8224C>T
NM_001407930.1:c.-177-14C>T
NM_001407931.1:c.-7-9260C>T
NM_001407932.1:c.-8+8224C>T
NM_001407933.1:c.-61-14C>T
NM_001407934.1:c.-61-14C>T
NM_001407935.1:c.-61-14C>T
NM_001407936.1:c.-8+8224C>T
NM_001407937.1:c.81-14C>T
NM_001407938.1:c.81-14C>T
NM_001407939.1:c.81-14C>T
NM_001407940.1:c.81-14C>T
NM_001407941.1:c.81-14C>T
NM_001407942.1:c.-177-14C>T
NM_001407943.1:c.-61-14C>T
NM_001407944.1:c.-61-14C>T
NM_001407945.1:c.-8+8224C>T
NM_001407946.1:c.-108-14C>T
NM_001407947.1:c.-108-14C>T
NM_001407948.1:c.-108-14C>T
NM_001407949.1:c.-108-14C>T
NM_001407950.1:c.-108-14C>T
NM_001407951.1:c.-108-14C>T
NM_001407952.1:c.-108-14C>T
NM_001407953.1:c.-108-14C>T
NM_001407954.1:c.-108-14C>T
NM_001407955.1:c.-108-14C>T
NM_001407956.1:c.-108-14C>T
NM_001407957.1:c.-108-14C>T
NM_001407958.1:c.-108-14C>T
NM_001407959.1:c.-170+9484C>T
NM_001407960.1:c.-223-14C>T
NM_001407962.1:c.-223-14C>T
NM_001407963.1:c.-170+9478C>T
NM_001407964.1:c.-61-14C>T
NM_001407965.1:c.-339-14C>T
NM_001407966.1:c.-219+9478C>T
NM_001407967.1:c.-219+9484C>T
NM_001407968.1:c.81-14C>T
NM_001407969.1:c.81-14C>T
NM_001407970.1:c.81-14C>T
NM_001407971.1:c.81-14C>T
NM_001407972.1:c.81-14C>T
NM_001407973.1:c.81-14C>T
NM_001407974.1:c.81-14C>T
NM_001407975.1:c.81-14C>T
NM_001407976.1:c.81-14C>T
NM_001407977.1:c.81-14C>T
NM_001407978.1:c.81-14C>T
NM_001407979.1:c.81-14C>T
NM_001407980.1:c.81-14C>T
NM_001407981.1:c.81-14C>T
NM_001407982.1:c.81-14C>T
NM_001407983.1:c.81-14C>T
NM_001407984.1:c.81-14C>T
NM_001407985.1:c.81-14C>T
NM_001407986.1:c.81-14C>T
NM_001407990.1:c.81-14C>T
NM_001407991.1:c.81-14C>T
NM_001407992.1:c.81-14C>T
NM_001407993.1:c.81-14C>T
NM_001408392.1:c.81-14C>T
NM_001408396.1:c.81-14C>T
NM_001408397.1:c.81-14C>T
NM_001408398.1:c.81-14C>T
NM_001408399.1:c.81-14C>T
NM_001408400.1:c.81-14C>T
NM_001408401.1:c.81-14C>T
NM_001408402.1:c.81-14C>T
NM_001408403.1:c.81-14C>T
NM_001408404.1:c.81-14C>T
NM_001408406.1:c.81-14C>T
NM_001408407.1:c.81-14C>T
NM_001408408.1:c.81-14C>T
NM_001408409.1:c.81-14C>T
NM_001408410.1:c.-61-14C>T
NM_001408411.1:c.81-14C>T
NM_001408412.1:c.81-14C>T
NM_001408413.1:c.81-14C>T
NM_001408414.1:c.81-14C>T
NM_001408415.1:c.81-14C>T
NM_001408416.1:c.81-14C>T
NM_001408418.1:c.81-14C>T
NM_001408419.1:c.81-14C>T
NM_001408420.1:c.81-14C>T
NM_001408421.1:c.81-14C>T
NM_001408422.1:c.81-14C>T
NM_001408423.1:c.81-14C>T
NM_001408424.1:c.81-14C>T
NM_001408425.1:c.81-14C>T
NM_001408426.1:c.81-14C>T
NM_001408427.1:c.81-14C>T
NM_001408428.1:c.81-14C>T
NM_001408429.1:c.81-14C>T
NM_001408430.1:c.81-14C>T
NM_001408431.1:c.81-14C>T
NM_001408432.1:c.81-14C>T
NM_001408433.1:c.81-14C>T
NM_001408434.1:c.81-14C>T
NM_001408435.1:c.81-14C>T
NM_001408436.1:c.81-14C>T
NM_001408437.1:c.81-14C>T
NM_001408438.1:c.81-14C>T
NM_001408439.1:c.81-14C>T
NM_001408440.1:c.81-14C>T
NM_001408441.1:c.81-14C>T
NM_001408442.1:c.81-14C>T
NM_001408443.1:c.81-14C>T
NM_001408444.1:c.81-14C>T
NM_001408445.1:c.81-14C>T
NM_001408446.1:c.81-14C>T
NM_001408447.1:c.81-14C>T
NM_001408448.1:c.81-14C>T
NM_001408450.1:c.81-14C>T
NM_001408451.1:c.80+8224C>T
NM_001408452.1:c.-61-14C>T
NM_001408453.1:c.-61-14C>T
NM_001408454.1:c.-8+8224C>T
NM_001408455.1:c.-177-14C>T
NM_001408456.1:c.-177-14C>T
NM_001408457.1:c.-7-9260C>T
NM_001408458.1:c.-61-14C>T
NM_001408459.1:c.-8+8224C>T
NM_001408460.1:c.-8+8224C>T
NM_001408461.1:c.-8+8224C>T
NM_001408462.1:c.-61-14C>T
NM_001408463.1:c.-61-14C>T
NM_001408464.1:c.-8+8224C>T
NM_001408465.1:c.-181-14C>T
NM_001408466.1:c.-61-14C>T
NM_001408467.1:c.-8+8224C>T
NM_001408468.1:c.-177-14C>T
NM_001408469.1:c.-61-14C>T
NM_001408470.1:c.-61-14C>T
NM_001408472.1:c.81-14C>T
NM_001408473.1:c.81-14C>T
NM_001408474.1:c.81-14C>T
NM_001408475.1:c.81-14C>T
NM_001408476.1:c.81-14C>T
NM_001408478.1:c.-108-14C>T
NM_001408479.1:c.-108-14C>T
NM_001408480.1:c.-108-14C>T
NM_001408481.1:c.-108-14C>T
NM_001408482.1:c.-108-14C>T
NM_001408483.1:c.-108-14C>T
NM_001408484.1:c.-108-14C>T
NM_001408485.1:c.-108-14C>T
NM_001408489.1:c.-108-14C>T
NM_001408490.1:c.-108-14C>T
NM_001408491.1:c.-108-14C>T
NM_001408492.1:c.-224-14C>T
NM_001408493.1:c.-108-14C>T
NM_001408494.1:c.81-14C>T
NM_001408495.1:c.81-14C>T
NM_001408496.1:c.-8+8224C>T
NM_001408497.1:c.-61-14C>T
NM_001408498.1:c.-8+8224C>T
NM_001408499.1:c.-61-14C>T
NM_001408500.1:c.-61-14C>T
NM_001408501.1:c.-177-14C>T
NM_001408502.1:c.-108-14C>T
NM_001408503.1:c.-61-14C>T
NM_001408504.1:c.-61-14C>T
NM_001408505.1:c.-61-14C>T
NM_001408506.1:c.-108-14C>T
NM_001408507.1:c.-108-14C>T
NM_001408508.1:c.-108-14C>T
NM_001408509.1:c.-108-14C>T
NM_001408510.1:c.-223-14C>T
NM_001408511.1:c.-7-9260C>T
NM_001408512.1:c.-223-14C>T
NM_001408513.1:c.-108-14C>T
NM_001408514.1:c.-108-14C>T
NM_007294.4:c.81-14C>TMANE SELECT
NM_007297.4:c.-8+8224C>T
NM_007298.4:c.81-14C>T
NM_007299.4:c.81-14C>T
NM_007300.4:c.81-14C>T
LRG_292t1:c.81-14C>T
LRG_292:g.102191C>T
NC_000017.10:g.41267810G>A
NM_007294.3:c.81-14C>T
NM_007297.3:c.-8+8224C>T
NM_007299.3:c.81-14C>T
NM_007300.3:c.81-14C>T
U14680.1:n.200-14C>T

Nucleotide change:

IVS2-14C>T

Links:

Breast Cancer Information Core (BIC) (BRCA1): 200-14&base_change=C to T; dbSNP: rs80358006

NCBI 1000 Genomes Browser:

rs80358006

Molecular consequence:

NM_001407571.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407582.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407583.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407585.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407587.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407590.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407591.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407593.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407594.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407596.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407597.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407598.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407602.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407603.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407605.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407610.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407611.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407612.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407613.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407614.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407615.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407616.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407617.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407618.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407619.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407620.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407621.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407622.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407623.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407624.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407625.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407626.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407627.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407628.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407629.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407630.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407631.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407632.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407633.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407634.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407635.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407636.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407637.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407638.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407639.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407640.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407641.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407642.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407644.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407645.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407646.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407647.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407648.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407649.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407652.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407653.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407654.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407655.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407656.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407657.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407658.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407659.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407660.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407661.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407662.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407663.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407664.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407665.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407666.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407667.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407668.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407669.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407670.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407671.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407672.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407673.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407674.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407675.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407676.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407677.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407678.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407679.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407680.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407681.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407682.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407683.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407684.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407685.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407686.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407687.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407688.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407689.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407690.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407691.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407692.1:c.-7-9260C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407694.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407695.1:c.-181-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407696.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407697.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407724.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407725.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.-8+5765C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407727.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407728.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407729.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407730.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407731.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407733.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407734.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407735.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407737.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407739.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407740.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407741.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407743.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407745.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407746.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.-7-9260C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407748.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407749.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.-8+5765C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407752.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407838.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407839.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407841.1:c.-57-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407842.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407843.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407844.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407846.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407847.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407848.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407850.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407851.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407853.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407854.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407858.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407859.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407860.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407861.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407862.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407863.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407874.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407875.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407879.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.-55+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407882.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407884.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407885.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407886.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407887.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407889.1:c.-224-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407894.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407895.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407896.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407897.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.-55+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407899.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407900.1:c.-224-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.-55+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407904.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407906.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407907.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407908.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407909.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407910.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407915.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407916.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407917.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407918.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407919.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407920.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407921.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407922.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407923.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407926.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407927.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407930.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.-7-9260C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407933.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407934.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407935.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407937.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407938.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407939.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407940.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407941.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407942.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407943.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407944.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407946.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407947.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407948.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407949.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407950.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407951.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407952.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407953.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407954.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407955.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407956.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407957.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407958.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.-170+9484C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407960.1:c.-223-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407962.1:c.-223-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.-170+9478C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407964.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407965.1:c.-339-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.-219+9478C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.-219+9484C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407968.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.80+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.-7-9260C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.-181-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.-224-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.-177-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.-61-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.-223-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.-7-9260C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.-223-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.-108-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007294.4:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.-8+8224C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007300.4:c.81-14C>T - intron variant - [Sequence Ontology: SO:0001627]

Functional consequence:

functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Rattus norvegicus solute carrier family 6 member 15 (Slc6a15), mRNA
Rattus norvegicus solute carrier family 6 member 15 (Slc6a15), mRNA
gi|27229291|ref|NM_172321.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000167220	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Jan 22, 2014)	germline	clinical testing	Citation Link,
SCV000586863	Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency - The Canadian Open Genetics Repository (COGR)	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Apr 18, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000588025	Department of Pathology and Molecular Medicine, Queen's University - The Canadian Open Genetics Repository (COGR)	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Apr 20, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000591235	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Benign	unknown	clinical testing
SCV000602683	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Benign (Sep 25, 2016)	germline	clinical testing	Citation Link,
SCV001906057	Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV001971102	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV002036498	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV002760949	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Aug 15, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 GeneDx, SCV000167220.11

#	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 Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency - The Canadian Open Genetics Repository (COGR), SCV000586863.1

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

#	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

From Department of Pathology and Molecular Medicine, Queen's University - The Canadian Open Genetics Repository (COGR), SCV000588025.1

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

#	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

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591235.2

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

Description

The c.81-14C>T was reported in the EPS project in 8 of 8600 (0.0009) in a European cohort and 1 of 4406 African American chromosomes, increasing the likelihood this is rare variant of unlikely clinical significance. Claes et al (2003) demonstrated by RT-PCR that there was no aberrant splicing increasing the likelihood this variant does not have clinical significance. dbSNPID rs80358006. This variant was identified in the UMD database 36x and it co-occurred with a second pathogenic variant 3 times. Judkins (2005) also report this variant as co-occurring with a second pathogenic variant, increasing the likelihood this variant does not have clinical significant. Myriad genetics classifies this variant as a polymorphsim (Personal communication). In summary, based on the above information, this variant is classified as benign.

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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000602683.1

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

#	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

From Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus, SCV001906057.1

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

#	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 Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001971102.1

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

#	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 Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV002036498.1

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

#	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 Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002760949.3

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

#	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

Relating variation to medicine