NM_007294.4(BRCA1):c.81-9C>G AND not provided

Germline classification:: Pathogenic (2 submissions)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001529263.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.81-9C>G]

NM_007294.4(BRCA1):c.81-9C>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.81-9C>G

Other names:

IVS2-9C>G

HGVS:

NC_000017.11:g.43115788G>C
NG_005905.2:g.102196C>G
NM_001407571.1:c.-108-9C>G
NM_001407581.1:c.81-9C>G
NM_001407582.1:c.81-9C>G
NM_001407583.1:c.81-9C>G
NM_001407585.1:c.81-9C>G
NM_001407587.1:c.81-9C>G
NM_001407590.1:c.81-9C>G
NM_001407591.1:c.81-9C>G
NM_001407593.1:c.81-9C>G
NM_001407594.1:c.81-9C>G
NM_001407596.1:c.81-9C>G
NM_001407597.1:c.81-9C>G
NM_001407598.1:c.81-9C>G
NM_001407602.1:c.81-9C>G
NM_001407603.1:c.81-9C>G
NM_001407605.1:c.81-9C>G
NM_001407610.1:c.81-9C>G
NM_001407611.1:c.81-9C>G
NM_001407612.1:c.81-9C>G
NM_001407613.1:c.81-9C>G
NM_001407614.1:c.81-9C>G
NM_001407615.1:c.81-9C>G
NM_001407616.1:c.81-9C>G
NM_001407617.1:c.81-9C>G
NM_001407618.1:c.81-9C>G
NM_001407619.1:c.81-9C>G
NM_001407620.1:c.81-9C>G
NM_001407621.1:c.81-9C>G
NM_001407622.1:c.81-9C>G
NM_001407623.1:c.81-9C>G
NM_001407624.1:c.81-9C>G
NM_001407625.1:c.81-9C>G
NM_001407626.1:c.81-9C>G
NM_001407627.1:c.81-9C>G
NM_001407628.1:c.81-9C>G
NM_001407629.1:c.81-9C>G
NM_001407630.1:c.81-9C>G
NM_001407631.1:c.81-9C>G
NM_001407632.1:c.81-9C>G
NM_001407633.1:c.81-9C>G
NM_001407634.1:c.81-9C>G
NM_001407635.1:c.81-9C>G
NM_001407636.1:c.81-9C>G
NM_001407637.1:c.81-9C>G
NM_001407638.1:c.81-9C>G
NM_001407639.1:c.81-9C>G
NM_001407640.1:c.81-9C>G
NM_001407641.1:c.81-9C>G
NM_001407642.1:c.81-9C>G
NM_001407644.1:c.81-9C>G
NM_001407645.1:c.81-9C>G
NM_001407646.1:c.81-9C>G
NM_001407647.1:c.81-9C>G
NM_001407648.1:c.81-9C>G
NM_001407649.1:c.81-9C>G
NM_001407652.1:c.81-9C>G
NM_001407653.1:c.81-9C>G
NM_001407654.1:c.81-9C>G
NM_001407655.1:c.81-9C>G
NM_001407656.1:c.81-9C>G
NM_001407657.1:c.81-9C>G
NM_001407658.1:c.81-9C>G
NM_001407659.1:c.81-9C>G
NM_001407660.1:c.81-9C>G
NM_001407661.1:c.81-9C>G
NM_001407662.1:c.81-9C>G
NM_001407663.1:c.81-9C>G
NM_001407664.1:c.81-9C>G
NM_001407665.1:c.81-9C>G
NM_001407666.1:c.81-9C>G
NM_001407667.1:c.81-9C>G
NM_001407668.1:c.81-9C>G
NM_001407669.1:c.81-9C>G
NM_001407670.1:c.81-9C>G
NM_001407671.1:c.81-9C>G
NM_001407672.1:c.81-9C>G
NM_001407673.1:c.81-9C>G
NM_001407674.1:c.81-9C>G
NM_001407675.1:c.81-9C>G
NM_001407676.1:c.81-9C>G
NM_001407677.1:c.81-9C>G
NM_001407678.1:c.81-9C>G
NM_001407679.1:c.81-9C>G
NM_001407680.1:c.81-9C>G
NM_001407681.1:c.81-9C>G
NM_001407682.1:c.81-9C>G
NM_001407683.1:c.81-9C>G
NM_001407684.1:c.81-9C>G
NM_001407685.1:c.81-9C>G
NM_001407686.1:c.81-9C>G
NM_001407687.1:c.81-9C>G
NM_001407688.1:c.81-9C>G
NM_001407689.1:c.81-9C>G
NM_001407690.1:c.81-9C>G
NM_001407691.1:c.81-9C>G
NM_001407692.1:c.-7-9255C>G
NM_001407694.1:c.-177-9C>G
NM_001407695.1:c.-181-9C>G
NM_001407696.1:c.-177-9C>G
NM_001407697.1:c.-61-9C>G
NM_001407698.1:c.-8+8229C>G
NM_001407724.1:c.-177-9C>G
NM_001407725.1:c.-61-9C>G
NM_001407726.1:c.-8+5770C>G
NM_001407727.1:c.-177-9C>G
NM_001407728.1:c.-61-9C>G
NM_001407729.1:c.-61-9C>G
NM_001407730.1:c.-61-9C>G
NM_001407731.1:c.-177-9C>G
NM_001407732.1:c.-8+8229C>G
NM_001407733.1:c.-177-9C>G
NM_001407734.1:c.-61-9C>G
NM_001407735.1:c.-61-9C>G
NM_001407736.1:c.-8+8229C>G
NM_001407737.1:c.-61-9C>G
NM_001407738.1:c.-8+8229C>G
NM_001407739.1:c.-61-9C>G
NM_001407740.1:c.-61-9C>G
NM_001407741.1:c.-61-9C>G
NM_001407742.1:c.-8+8229C>G
NM_001407743.1:c.-61-9C>G
NM_001407744.1:c.-8+8229C>G
NM_001407745.1:c.-61-9C>G
NM_001407746.1:c.-177-9C>G
NM_001407747.1:c.-7-9255C>G
NM_001407748.1:c.-61-9C>G
NM_001407749.1:c.-177-9C>G
NM_001407750.1:c.-8+8229C>G
NM_001407751.1:c.-8+5770C>G
NM_001407752.1:c.-61-9C>G
NM_001407838.1:c.-61-9C>G
NM_001407839.1:c.-61-9C>G
NM_001407841.1:c.-57-9C>G
NM_001407842.1:c.-177-9C>G
NM_001407843.1:c.-177-9C>G
NM_001407844.1:c.-61-9C>G
NM_001407845.1:c.-8+8229C>G
NM_001407846.1:c.-61-9C>G
NM_001407847.1:c.-61-9C>G
NM_001407848.1:c.-61-9C>G
NM_001407849.1:c.-8+8229C>G
NM_001407850.1:c.-61-9C>G
NM_001407851.1:c.-61-9C>G
NM_001407852.1:c.-8+8229C>G
NM_001407853.1:c.-108-9C>G
NM_001407854.1:c.81-9C>G
NM_001407858.1:c.81-9C>G
NM_001407859.1:c.81-9C>G
NM_001407860.1:c.81-9C>G
NM_001407861.1:c.81-9C>G
NM_001407862.1:c.81-9C>G
NM_001407863.1:c.81-9C>G
NM_001407874.1:c.81-9C>G
NM_001407875.1:c.81-9C>G
NM_001407879.1:c.-108-9C>G
NM_001407881.1:c.-55+8229C>G
NM_001407882.1:c.-108-9C>G
NM_001407884.1:c.-108-9C>G
NM_001407885.1:c.-108-9C>G
NM_001407886.1:c.-108-9C>G
NM_001407887.1:c.-108-9C>G
NM_001407889.1:c.-224-9C>G
NM_001407894.1:c.-108-9C>G
NM_001407895.1:c.-108-9C>G
NM_001407896.1:c.-108-9C>G
NM_001407897.1:c.-108-9C>G
NM_001407898.1:c.-55+8229C>G
NM_001407899.1:c.-108-9C>G
NM_001407900.1:c.-224-9C>G
NM_001407902.1:c.-55+8229C>G
NM_001407904.1:c.-108-9C>G
NM_001407906.1:c.-108-9C>G
NM_001407907.1:c.-108-9C>G
NM_001407908.1:c.-108-9C>G
NM_001407909.1:c.-108-9C>G
NM_001407910.1:c.-108-9C>G
NM_001407915.1:c.-108-9C>G
NM_001407916.1:c.-108-9C>G
NM_001407917.1:c.-108-9C>G
NM_001407918.1:c.-108-9C>G
NM_001407919.1:c.81-9C>G
NM_001407920.1:c.-61-9C>G
NM_001407921.1:c.-61-9C>G
NM_001407922.1:c.-61-9C>G
NM_001407923.1:c.-61-9C>G
NM_001407924.1:c.-8+8229C>G
NM_001407925.1:c.-8+8229C>G
NM_001407926.1:c.-61-9C>G
NM_001407927.1:c.-61-9C>G
NM_001407928.1:c.-8+8229C>G
NM_001407929.1:c.-8+8229C>G
NM_001407930.1:c.-177-9C>G
NM_001407931.1:c.-7-9255C>G
NM_001407932.1:c.-8+8229C>G
NM_001407933.1:c.-61-9C>G
NM_001407934.1:c.-61-9C>G
NM_001407935.1:c.-61-9C>G
NM_001407936.1:c.-8+8229C>G
NM_001407937.1:c.81-9C>G
NM_001407938.1:c.81-9C>G
NM_001407939.1:c.81-9C>G
NM_001407940.1:c.81-9C>G
NM_001407941.1:c.81-9C>G
NM_001407942.1:c.-177-9C>G
NM_001407943.1:c.-61-9C>G
NM_001407944.1:c.-61-9C>G
NM_001407945.1:c.-8+8229C>G
NM_001407946.1:c.-108-9C>G
NM_001407947.1:c.-108-9C>G
NM_001407948.1:c.-108-9C>G
NM_001407949.1:c.-108-9C>G
NM_001407950.1:c.-108-9C>G
NM_001407951.1:c.-108-9C>G
NM_001407952.1:c.-108-9C>G
NM_001407953.1:c.-108-9C>G
NM_001407954.1:c.-108-9C>G
NM_001407955.1:c.-108-9C>G
NM_001407956.1:c.-108-9C>G
NM_001407957.1:c.-108-9C>G
NM_001407958.1:c.-108-9C>G
NM_001407959.1:c.-170+9489C>G
NM_001407960.1:c.-223-9C>G
NM_001407962.1:c.-223-9C>G
NM_001407963.1:c.-170+9483C>G
NM_001407964.1:c.-61-9C>G
NM_001407965.1:c.-339-9C>G
NM_001407966.1:c.-219+9483C>G
NM_001407967.1:c.-219+9489C>G
NM_001407968.1:c.81-9C>G
NM_001407969.1:c.81-9C>G
NM_001407970.1:c.81-9C>G
NM_001407971.1:c.81-9C>G
NM_001407972.1:c.81-9C>G
NM_001407973.1:c.81-9C>G
NM_001407974.1:c.81-9C>G
NM_001407975.1:c.81-9C>G
NM_001407976.1:c.81-9C>G
NM_001407977.1:c.81-9C>G
NM_001407978.1:c.81-9C>G
NM_001407979.1:c.81-9C>G
NM_001407980.1:c.81-9C>G
NM_001407981.1:c.81-9C>G
NM_001407982.1:c.81-9C>G
NM_001407983.1:c.81-9C>G
NM_001407984.1:c.81-9C>G
NM_001407985.1:c.81-9C>G
NM_001407986.1:c.81-9C>G
NM_001407990.1:c.81-9C>G
NM_001407991.1:c.81-9C>G
NM_001407992.1:c.81-9C>G
NM_001407993.1:c.81-9C>G
NM_001408392.1:c.81-9C>G
NM_001408396.1:c.81-9C>G
NM_001408397.1:c.81-9C>G
NM_001408398.1:c.81-9C>G
NM_001408399.1:c.81-9C>G
NM_001408400.1:c.81-9C>G
NM_001408401.1:c.81-9C>G
NM_001408402.1:c.81-9C>G
NM_001408403.1:c.81-9C>G
NM_001408404.1:c.81-9C>G
NM_001408406.1:c.81-9C>G
NM_001408407.1:c.81-9C>G
NM_001408408.1:c.81-9C>G
NM_001408409.1:c.81-9C>G
NM_001408410.1:c.-61-9C>G
NM_001408411.1:c.81-9C>G
NM_001408412.1:c.81-9C>G
NM_001408413.1:c.81-9C>G
NM_001408414.1:c.81-9C>G
NM_001408415.1:c.81-9C>G
NM_001408416.1:c.81-9C>G
NM_001408418.1:c.81-9C>G
NM_001408419.1:c.81-9C>G
NM_001408420.1:c.81-9C>G
NM_001408421.1:c.81-9C>G
NM_001408422.1:c.81-9C>G
NM_001408423.1:c.81-9C>G
NM_001408424.1:c.81-9C>G
NM_001408425.1:c.81-9C>G
NM_001408426.1:c.81-9C>G
NM_001408427.1:c.81-9C>G
NM_001408428.1:c.81-9C>G
NM_001408429.1:c.81-9C>G
NM_001408430.1:c.81-9C>G
NM_001408431.1:c.81-9C>G
NM_001408432.1:c.81-9C>G
NM_001408433.1:c.81-9C>G
NM_001408434.1:c.81-9C>G
NM_001408435.1:c.81-9C>G
NM_001408436.1:c.81-9C>G
NM_001408437.1:c.81-9C>G
NM_001408438.1:c.81-9C>G
NM_001408439.1:c.81-9C>G
NM_001408440.1:c.81-9C>G
NM_001408441.1:c.81-9C>G
NM_001408442.1:c.81-9C>G
NM_001408443.1:c.81-9C>G
NM_001408444.1:c.81-9C>G
NM_001408445.1:c.81-9C>G
NM_001408446.1:c.81-9C>G
NM_001408447.1:c.81-9C>G
NM_001408448.1:c.81-9C>G
NM_001408450.1:c.81-9C>G
NM_001408451.1:c.80+8229C>G
NM_001408452.1:c.-61-9C>G
NM_001408453.1:c.-61-9C>G
NM_001408454.1:c.-8+8229C>G
NM_001408455.1:c.-177-9C>G
NM_001408456.1:c.-177-9C>G
NM_001408457.1:c.-7-9255C>G
NM_001408458.1:c.-61-9C>G
NM_001408459.1:c.-8+8229C>G
NM_001408460.1:c.-8+8229C>G
NM_001408461.1:c.-8+8229C>G
NM_001408462.1:c.-61-9C>G
NM_001408463.1:c.-61-9C>G
NM_001408464.1:c.-8+8229C>G
NM_001408465.1:c.-181-9C>G
NM_001408466.1:c.-61-9C>G
NM_001408467.1:c.-8+8229C>G
NM_001408468.1:c.-177-9C>G
NM_001408469.1:c.-61-9C>G
NM_001408470.1:c.-61-9C>G
NM_001408472.1:c.81-9C>G
NM_001408473.1:c.81-9C>G
NM_001408474.1:c.81-9C>G
NM_001408475.1:c.81-9C>G
NM_001408476.1:c.81-9C>G
NM_001408478.1:c.-108-9C>G
NM_001408479.1:c.-108-9C>G
NM_001408480.1:c.-108-9C>G
NM_001408481.1:c.-108-9C>G
NM_001408482.1:c.-108-9C>G
NM_001408483.1:c.-108-9C>G
NM_001408484.1:c.-108-9C>G
NM_001408485.1:c.-108-9C>G
NM_001408489.1:c.-108-9C>G
NM_001408490.1:c.-108-9C>G
NM_001408491.1:c.-108-9C>G
NM_001408492.1:c.-224-9C>G
NM_001408493.1:c.-108-9C>G
NM_001408494.1:c.81-9C>G
NM_001408495.1:c.81-9C>G
NM_001408496.1:c.-8+8229C>G
NM_001408497.1:c.-61-9C>G
NM_001408498.1:c.-8+8229C>G
NM_001408499.1:c.-61-9C>G
NM_001408500.1:c.-61-9C>G
NM_001408501.1:c.-177-9C>G
NM_001408502.1:c.-108-9C>G
NM_001408503.1:c.-61-9C>G
NM_001408504.1:c.-61-9C>G
NM_001408505.1:c.-61-9C>G
NM_001408506.1:c.-108-9C>G
NM_001408507.1:c.-108-9C>G
NM_001408508.1:c.-108-9C>G
NM_001408509.1:c.-108-9C>G
NM_001408510.1:c.-223-9C>G
NM_001408511.1:c.-7-9255C>G
NM_001408512.1:c.-223-9C>G
NM_001408513.1:c.-108-9C>G
NM_001408514.1:c.-108-9C>G
NM_007294.4:c.81-9C>GMANE SELECT
NM_007297.4:c.-8+8229C>G
NM_007298.4:c.81-9C>G
NM_007299.4:c.81-9C>G
NM_007300.4:c.81-9C>G
LRG_292t1:c.81-9C>G
LRG_292:g.102196C>G
NC_000017.10:g.41267805G>C
NM_007294.3:c.81-9C>G
U14680.1:n.200-9C>G

Links:

Breast Cancer Information Core (BIC) (BRCA1): 200-9&base_change=C to G; dbSNP: rs80358127

NCBI 1000 Genomes Browser:

rs80358127

Molecular consequence:

NM_001407571.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407582.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407583.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407585.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407587.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407590.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407591.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407593.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407594.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407596.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407597.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407598.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407602.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407603.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407605.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407610.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407611.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407612.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407613.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407614.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407615.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407616.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407617.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407618.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407619.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407620.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407621.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407622.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407623.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407624.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407625.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407626.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407627.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407628.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407629.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407630.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407631.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407632.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407633.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407634.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407635.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407636.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407637.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407638.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407639.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407640.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407641.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407642.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407644.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407645.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407646.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407647.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407648.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407649.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407652.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407653.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407654.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407655.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407656.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407657.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407658.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407659.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407660.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407661.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407662.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407663.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407664.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407665.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407666.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407667.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407668.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407669.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407670.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407671.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407672.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407673.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407674.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407675.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407676.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407677.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407678.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407679.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407680.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407681.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407682.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407683.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407684.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407685.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407686.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407687.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407688.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407689.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407690.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407691.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407692.1:c.-7-9255C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407694.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407695.1:c.-181-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407696.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407697.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407724.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407725.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.-8+5770C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407727.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407728.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407729.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407730.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407731.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407733.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407734.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407735.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407737.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407739.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407740.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407741.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407743.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407745.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407746.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.-7-9255C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407748.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407749.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.-8+5770C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407752.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407838.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407839.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407841.1:c.-57-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407842.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407843.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407844.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407846.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407847.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407848.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407850.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407851.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407853.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407854.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407858.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407859.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407860.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407861.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407862.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407863.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407874.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407875.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407879.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.-55+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407882.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407884.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407885.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407886.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407887.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407889.1:c.-224-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407894.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407895.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407896.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407897.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.-55+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407899.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407900.1:c.-224-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.-55+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407904.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407906.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407907.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407908.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407909.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407910.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407915.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407916.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407917.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407918.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407919.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407920.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407921.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407922.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407923.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407926.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407927.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407930.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.-7-9255C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407933.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407934.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407935.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407937.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407938.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407939.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407940.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407941.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407942.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407943.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407944.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407946.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407947.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407948.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407949.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407950.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407951.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407952.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407953.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407954.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407955.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407956.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407957.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407958.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.-170+9489C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407960.1:c.-223-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407962.1:c.-223-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.-170+9483C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407964.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407965.1:c.-339-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.-219+9483C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.-219+9489C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407968.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.80+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.-7-9255C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.-181-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.-224-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.-177-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.-61-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.-223-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.-7-9255C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.-223-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.-108-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007294.4:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.-8+8229C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007300.4:c.81-9C>G - intron variant - [Sequence Ontology: SO:0001627]

Functional consequence:

functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Festuca molokaiensis isolate BISH-728771 tRNA-Leu (trnL) gene and trnL-trnF inte...
Festuca molokaiensis isolate BISH-728771 tRNA-Leu (trnL) gene and trnL-trnF intergenic spacer, partial sequence; chloroplast
gi|239580020|gb|GQ162210.1|

Nucleotide
Festuca novae-zelandiae OTA057939 18S ribosomal RNA gene, partial sequence; inte...
Festuca novae-zelandiae OTA057939 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 26S ribosomal RNA gene, partial sequence
gi|46488652|gb|AY524832.1|

Nucleotide
Homo sapiens isolate CHM13 chromosome 1, alternate assembly T2T-CHM13v2.0
Homo sapiens isolate CHM13 chromosome 1, alternate assembly T2T-CHM13v2.0
gi|2194974903|gnl|ASM:GCF_009914825 f|NC_060925.1||gpp|GPC_000012740.1||gnl|NCBI_GENOMES|119561

Nucleotide
Chromosome neighbors for GEO Profiles (Select 19538914) (20)
GEO Profiles
OMIM Links for GEO Profiles (Select 132353920) (1)
OMIM

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001742414	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV001905849	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	Pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001742414

Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus

no assertion criteria provided

Pathogenic

germline

clinical testing

SCV001905849

Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Pathogenic

germline

clinical testing

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

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001742414.3

#	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 Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus, SCV001905849.1

#	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

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine