NM_007294.4(BRCA1):c.134+3A>G AND Malignant tumor of breast
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000499578.3
Allele description [Variation Report for NM_007294.4(BRCA1):c.134+3A>G]
NM_007294.4(BRCA1):c.134+3A>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.134+3A>G
- HGVS:
- NC_000017.11:g.43115723T>C
- NG_005905.2:g.102261A>G
- NM_001407571.1:c.-55+3A>G
- NM_001407581.1:c.134+3A>G
- NM_001407582.1:c.134+3A>G
- NM_001407583.1:c.134+3A>G
- NM_001407585.1:c.134+3A>G
- NM_001407587.1:c.134+3A>G
- NM_001407590.1:c.134+3A>G
- NM_001407591.1:c.134+3A>G
- NM_001407593.1:c.134+3A>G
- NM_001407594.1:c.134+3A>G
- NM_001407596.1:c.134+3A>G
- NM_001407597.1:c.134+3A>G
- NM_001407598.1:c.134+3A>G
- NM_001407602.1:c.134+3A>G
- NM_001407603.1:c.134+3A>G
- NM_001407605.1:c.134+3A>G
- NM_001407610.1:c.134+3A>G
- NM_001407611.1:c.134+3A>G
- NM_001407612.1:c.134+3A>G
- NM_001407613.1:c.134+3A>G
- NM_001407614.1:c.134+3A>G
- NM_001407615.1:c.134+3A>G
- NM_001407616.1:c.134+3A>G
- NM_001407617.1:c.134+3A>G
- NM_001407618.1:c.134+3A>G
- NM_001407619.1:c.134+3A>G
- NM_001407620.1:c.134+3A>G
- NM_001407621.1:c.134+3A>G
- NM_001407622.1:c.134+3A>G
- NM_001407623.1:c.134+3A>G
- NM_001407624.1:c.134+3A>G
- NM_001407625.1:c.134+3A>G
- NM_001407626.1:c.134+3A>G
- NM_001407627.1:c.134+3A>G
- NM_001407628.1:c.134+3A>G
- NM_001407629.1:c.134+3A>G
- NM_001407630.1:c.134+3A>G
- NM_001407631.1:c.134+3A>G
- NM_001407632.1:c.134+3A>G
- NM_001407633.1:c.134+3A>G
- NM_001407634.1:c.134+3A>G
- NM_001407635.1:c.134+3A>G
- NM_001407636.1:c.134+3A>G
- NM_001407637.1:c.134+3A>G
- NM_001407638.1:c.134+3A>G
- NM_001407639.1:c.134+3A>G
- NM_001407640.1:c.134+3A>G
- NM_001407641.1:c.134+3A>G
- NM_001407642.1:c.134+3A>G
- NM_001407644.1:c.134+3A>G
- NM_001407645.1:c.134+3A>G
- NM_001407646.1:c.134+3A>G
- NM_001407647.1:c.134+3A>G
- NM_001407648.1:c.134+3A>G
- NM_001407649.1:c.134+3A>G
- NM_001407652.1:c.134+3A>G
- NM_001407653.1:c.134+3A>G
- NM_001407654.1:c.134+3A>G
- NM_001407655.1:c.134+3A>G
- NM_001407656.1:c.134+3A>G
- NM_001407657.1:c.134+3A>G
- NM_001407658.1:c.134+3A>G
- NM_001407659.1:c.134+3A>G
- NM_001407660.1:c.134+3A>G
- NM_001407661.1:c.134+3A>G
- NM_001407662.1:c.134+3A>G
- NM_001407663.1:c.134+3A>G
- NM_001407664.1:c.134+3A>G
- NM_001407665.1:c.134+3A>G
- NM_001407666.1:c.134+3A>G
- NM_001407667.1:c.134+3A>G
- NM_001407668.1:c.134+3A>G
- NM_001407669.1:c.134+3A>G
- NM_001407670.1:c.134+3A>G
- NM_001407671.1:c.134+3A>G
- NM_001407672.1:c.134+3A>G
- NM_001407673.1:c.134+3A>G
- NM_001407674.1:c.134+3A>G
- NM_001407675.1:c.134+3A>G
- NM_001407676.1:c.134+3A>G
- NM_001407677.1:c.134+3A>G
- NM_001407678.1:c.134+3A>G
- NM_001407679.1:c.134+3A>G
- NM_001407680.1:c.134+3A>G
- NM_001407681.1:c.134+3A>G
- NM_001407682.1:c.134+3A>G
- NM_001407683.1:c.134+3A>G
- NM_001407684.1:c.134+3A>G
- NM_001407685.1:c.134+3A>G
- NM_001407686.1:c.134+3A>G
- NM_001407687.1:c.134+3A>G
- NM_001407688.1:c.134+3A>G
- NM_001407689.1:c.134+3A>G
- NM_001407690.1:c.134+3A>G
- NM_001407691.1:c.134+3A>G
- NM_001407692.1:c.-7-9190A>G
- NM_001407694.1:c.-124+3A>G
- NM_001407695.1:c.-128+3A>G
- NM_001407696.1:c.-124+3A>G
- NM_001407697.1:c.-8+3A>G
- NM_001407698.1:c.-8+8294A>G
- NM_001407724.1:c.-124+3A>G
- NM_001407725.1:c.-8+3A>G
- NM_001407726.1:c.-8+5835A>G
- NM_001407727.1:c.-124+3A>G
- NM_001407728.1:c.-8+3A>G
- NM_001407729.1:c.-8+3A>G
- NM_001407730.1:c.-8+3A>G
- NM_001407731.1:c.-124+3A>G
- NM_001407732.1:c.-8+8294A>G
- NM_001407733.1:c.-124+3A>G
- NM_001407734.1:c.-8+3A>G
- NM_001407735.1:c.-8+3A>G
- NM_001407736.1:c.-8+8294A>G
- NM_001407737.1:c.-8+3A>G
- NM_001407738.1:c.-8+8294A>G
- NM_001407739.1:c.-8+3A>G
- NM_001407740.1:c.-8+3A>G
- NM_001407741.1:c.-8+3A>G
- NM_001407742.1:c.-8+8294A>G
- NM_001407743.1:c.-8+3A>G
- NM_001407744.1:c.-8+8294A>G
- NM_001407745.1:c.-8+3A>G
- NM_001407746.1:c.-124+3A>G
- NM_001407747.1:c.-7-9190A>G
- NM_001407748.1:c.-8+3A>G
- NM_001407749.1:c.-124+3A>G
- NM_001407750.1:c.-8+8294A>G
- NM_001407751.1:c.-8+5835A>G
- NM_001407752.1:c.-8+3A>G
- NM_001407838.1:c.-8+3A>G
- NM_001407839.1:c.-8+3A>G
- NM_001407841.1:c.-8+7A>G
- NM_001407842.1:c.-124+3A>G
- NM_001407843.1:c.-124+3A>G
- NM_001407844.1:c.-8+3A>G
- NM_001407845.1:c.-8+8294A>G
- NM_001407846.1:c.-8+3A>G
- NM_001407847.1:c.-8+3A>G
- NM_001407848.1:c.-8+3A>G
- NM_001407849.1:c.-8+8294A>G
- NM_001407850.1:c.-8+3A>G
- NM_001407851.1:c.-8+3A>G
- NM_001407852.1:c.-8+8294A>G
- NM_001407853.1:c.-55+3A>G
- NM_001407854.1:c.134+3A>G
- NM_001407858.1:c.134+3A>G
- NM_001407859.1:c.134+3A>G
- NM_001407860.1:c.134+3A>G
- NM_001407861.1:c.134+3A>G
- NM_001407862.1:c.134+3A>G
- NM_001407863.1:c.134+3A>G
- NM_001407874.1:c.134+3A>G
- NM_001407875.1:c.134+3A>G
- NM_001407879.1:c.-55+3A>G
- NM_001407881.1:c.-55+8294A>G
- NM_001407882.1:c.-55+3A>G
- NM_001407884.1:c.-55+3A>G
- NM_001407885.1:c.-55+3A>G
- NM_001407886.1:c.-55+3A>G
- NM_001407887.1:c.-55+3A>G
- NM_001407889.1:c.-171+3A>G
- NM_001407894.1:c.-55+3A>G
- NM_001407895.1:c.-55+3A>G
- NM_001407896.1:c.-55+3A>G
- NM_001407897.1:c.-55+3A>G
- NM_001407898.1:c.-55+8294A>G
- NM_001407899.1:c.-55+3A>G
- NM_001407900.1:c.-171+3A>G
- NM_001407902.1:c.-55+8294A>G
- NM_001407904.1:c.-55+3A>G
- NM_001407906.1:c.-55+3A>G
- NM_001407907.1:c.-55+3A>G
- NM_001407908.1:c.-55+3A>G
- NM_001407909.1:c.-55+3A>G
- NM_001407910.1:c.-55+3A>G
- NM_001407915.1:c.-55+3A>G
- NM_001407916.1:c.-55+3A>G
- NM_001407917.1:c.-55+3A>G
- NM_001407918.1:c.-55+3A>G
- NM_001407919.1:c.134+3A>G
- NM_001407920.1:c.-8+3A>G
- NM_001407921.1:c.-8+3A>G
- NM_001407922.1:c.-8+3A>G
- NM_001407923.1:c.-8+3A>G
- NM_001407924.1:c.-8+8294A>G
- NM_001407925.1:c.-8+8294A>G
- NM_001407926.1:c.-8+3A>G
- NM_001407927.1:c.-8+3A>G
- NM_001407928.1:c.-8+8294A>G
- NM_001407929.1:c.-8+8294A>G
- NM_001407930.1:c.-124+3A>G
- NM_001407931.1:c.-7-9190A>G
- NM_001407932.1:c.-8+8294A>G
- NM_001407933.1:c.-8+3A>G
- NM_001407934.1:c.-8+3A>G
- NM_001407935.1:c.-8+3A>G
- NM_001407936.1:c.-8+8294A>G
- NM_001407937.1:c.134+3A>G
- NM_001407938.1:c.134+3A>G
- NM_001407939.1:c.134+3A>G
- NM_001407940.1:c.134+3A>G
- NM_001407941.1:c.134+3A>G
- NM_001407942.1:c.-124+3A>G
- NM_001407943.1:c.-8+3A>G
- NM_001407944.1:c.-8+3A>G
- NM_001407945.1:c.-8+8294A>G
- NM_001407946.1:c.-55+3A>G
- NM_001407947.1:c.-55+3A>G
- NM_001407948.1:c.-55+3A>G
- NM_001407949.1:c.-55+3A>G
- NM_001407950.1:c.-55+3A>G
- NM_001407951.1:c.-55+3A>G
- NM_001407952.1:c.-55+3A>G
- NM_001407953.1:c.-55+3A>G
- NM_001407954.1:c.-55+3A>G
- NM_001407955.1:c.-55+3A>G
- NM_001407956.1:c.-55+3A>G
- NM_001407957.1:c.-55+3A>G
- NM_001407958.1:c.-55+3A>G
- NM_001407959.1:c.-170+9554A>G
- NM_001407960.1:c.-170+3A>G
- NM_001407962.1:c.-170+3A>G
- NM_001407963.1:c.-170+9548A>G
- NM_001407964.1:c.-8+3A>G
- NM_001407965.1:c.-286+3A>G
- NM_001407966.1:c.-219+9548A>G
- NM_001407967.1:c.-219+9554A>G
- NM_001407968.1:c.134+3A>G
- NM_001407969.1:c.134+3A>G
- NM_001407970.1:c.134+3A>G
- NM_001407971.1:c.134+3A>G
- NM_001407972.1:c.134+3A>G
- NM_001407973.1:c.134+3A>G
- NM_001407974.1:c.134+3A>G
- NM_001407975.1:c.134+3A>G
- NM_001407976.1:c.134+3A>G
- NM_001407977.1:c.134+3A>G
- NM_001407978.1:c.134+3A>G
- NM_001407979.1:c.134+3A>G
- NM_001407980.1:c.134+3A>G
- NM_001407981.1:c.134+3A>G
- NM_001407982.1:c.134+3A>G
- NM_001407983.1:c.134+3A>G
- NM_001407984.1:c.134+3A>G
- NM_001407985.1:c.134+3A>G
- NM_001407986.1:c.134+3A>G
- NM_001407990.1:c.134+3A>G
- NM_001407991.1:c.134+3A>G
- NM_001407992.1:c.134+3A>G
- NM_001407993.1:c.134+3A>G
- NM_001408392.1:c.134+3A>G
- NM_001408396.1:c.134+3A>G
- NM_001408397.1:c.134+3A>G
- NM_001408398.1:c.134+3A>G
- NM_001408399.1:c.134+3A>G
- NM_001408400.1:c.134+3A>G
- NM_001408401.1:c.134+3A>G
- NM_001408402.1:c.134+3A>G
- NM_001408403.1:c.134+3A>G
- NM_001408404.1:c.134+3A>G
- NM_001408406.1:c.134+3A>G
- NM_001408407.1:c.134+3A>G
- NM_001408408.1:c.134+3A>G
- NM_001408409.1:c.134+3A>G
- NM_001408410.1:c.-8+3A>G
- NM_001408411.1:c.134+3A>G
- NM_001408412.1:c.134+3A>G
- NM_001408413.1:c.134+3A>G
- NM_001408414.1:c.134+3A>G
- NM_001408415.1:c.134+3A>G
- NM_001408416.1:c.134+3A>G
- NM_001408418.1:c.134+3A>G
- NM_001408419.1:c.134+3A>G
- NM_001408420.1:c.134+3A>G
- NM_001408421.1:c.134+3A>G
- NM_001408422.1:c.134+3A>G
- NM_001408423.1:c.134+3A>G
- NM_001408424.1:c.134+3A>G
- NM_001408425.1:c.134+3A>G
- NM_001408426.1:c.134+3A>G
- NM_001408427.1:c.134+3A>G
- NM_001408428.1:c.134+3A>G
- NM_001408429.1:c.134+3A>G
- NM_001408430.1:c.134+3A>G
- NM_001408431.1:c.134+3A>G
- NM_001408432.1:c.134+3A>G
- NM_001408433.1:c.134+3A>G
- NM_001408434.1:c.134+3A>G
- NM_001408435.1:c.134+3A>G
- NM_001408436.1:c.134+3A>G
- NM_001408437.1:c.134+3A>G
- NM_001408438.1:c.134+3A>G
- NM_001408439.1:c.134+3A>G
- NM_001408440.1:c.134+3A>G
- NM_001408441.1:c.134+3A>G
- NM_001408442.1:c.134+3A>G
- NM_001408443.1:c.134+3A>G
- NM_001408444.1:c.134+3A>G
- NM_001408445.1:c.134+3A>G
- NM_001408446.1:c.134+3A>G
- NM_001408447.1:c.134+3A>G
- NM_001408448.1:c.134+3A>G
- NM_001408450.1:c.134+3A>G
- NM_001408451.1:c.80+8294A>G
- NM_001408452.1:c.-8+3A>G
- NM_001408453.1:c.-8+3A>G
- NM_001408454.1:c.-8+8294A>G
- NM_001408455.1:c.-124+3A>G
- NM_001408456.1:c.-124+3A>G
- NM_001408457.1:c.-7-9190A>G
- NM_001408458.1:c.-8+3A>G
- NM_001408459.1:c.-8+8294A>G
- NM_001408460.1:c.-8+8294A>G
- NM_001408461.1:c.-8+8294A>G
- NM_001408462.1:c.-8+3A>G
- NM_001408463.1:c.-8+3A>G
- NM_001408464.1:c.-8+8294A>G
- NM_001408465.1:c.-128+3A>G
- NM_001408466.1:c.-8+3A>G
- NM_001408467.1:c.-8+8294A>G
- NM_001408468.1:c.-124+3A>G
- NM_001408469.1:c.-8+3A>G
- NM_001408470.1:c.-8+3A>G
- NM_001408472.1:c.134+3A>G
- NM_001408473.1:c.134+3A>G
- NM_001408474.1:c.134+3A>G
- NM_001408475.1:c.134+3A>G
- NM_001408476.1:c.134+3A>G
- NM_001408478.1:c.-55+3A>G
- NM_001408479.1:c.-55+3A>G
- NM_001408480.1:c.-55+3A>G
- NM_001408481.1:c.-55+3A>G
- NM_001408482.1:c.-55+3A>G
- NM_001408483.1:c.-55+3A>G
- NM_001408484.1:c.-55+3A>G
- NM_001408485.1:c.-55+3A>G
- NM_001408489.1:c.-55+3A>G
- NM_001408490.1:c.-55+3A>G
- NM_001408491.1:c.-55+3A>G
- NM_001408492.1:c.-171+3A>G
- NM_001408493.1:c.-55+3A>G
- NM_001408494.1:c.134+3A>G
- NM_001408495.1:c.134+3A>G
- NM_001408496.1:c.-8+8294A>G
- NM_001408497.1:c.-8+3A>G
- NM_001408498.1:c.-8+8294A>G
- NM_001408499.1:c.-8+3A>G
- NM_001408500.1:c.-8+3A>G
- NM_001408501.1:c.-124+3A>G
- NM_001408502.1:c.-55+3A>G
- NM_001408503.1:c.-8+3A>G
- NM_001408504.1:c.-8+3A>G
- NM_001408505.1:c.-8+3A>G
- NM_001408506.1:c.-55+3A>G
- NM_001408507.1:c.-55+3A>G
- NM_001408508.1:c.-55+3A>G
- NM_001408509.1:c.-55+3A>G
- NM_001408510.1:c.-170+3A>G
- NM_001408511.1:c.-7-9190A>G
- NM_001408512.1:c.-170+3A>G
- NM_001408513.1:c.-55+3A>G
- NM_001408514.1:c.-55+3A>G
- NM_007294.4:c.134+3A>GMANE SELECT
- NM_007297.4:c.-8+8294A>G
- NM_007298.4:c.134+3A>G
- NM_007299.4:c.134+3A>G
- NM_007300.4:c.134+3A>G
- LRG_292t1:c.134+3A>G
- LRG_292:g.102261A>G
- NC_000017.10:g.41267740T>C
- NM_007294.3:c.134+3A>G
This HGVS expression did not pass validation- Links:
- dbSNP: rs80358064
- NCBI 1000 Genomes Browser:
- rs80358064
- Molecular consequence:
- NM_001407571.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407582.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407583.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407585.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407587.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407590.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407591.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407593.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407594.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407596.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407597.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407598.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407602.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407603.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407605.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407610.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407611.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407612.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407613.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407614.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407615.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407616.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407617.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407618.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407619.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407620.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407621.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407622.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407623.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407624.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407625.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407626.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407627.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407628.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407629.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407630.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407631.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407632.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407633.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407634.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407635.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407636.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407637.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407638.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407639.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407640.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407641.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407642.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407644.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407645.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407646.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407647.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407648.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407649.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407652.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407653.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407654.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407655.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407656.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407657.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407658.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407659.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407660.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407661.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407662.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407663.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407664.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407665.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407666.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407667.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407668.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407669.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407670.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407671.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407672.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407673.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407674.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407675.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407676.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407677.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407678.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407679.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407680.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407681.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407682.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407683.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407684.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407685.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407686.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407687.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407688.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407689.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407690.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407691.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407692.1:c.-7-9190A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407694.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407695.1:c.-128+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407696.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407697.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407698.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407724.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407725.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407726.1:c.-8+5835A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407727.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407728.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407729.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407730.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407731.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407732.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407733.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407734.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407735.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407736.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407737.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407738.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407739.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407740.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407741.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407742.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407743.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407744.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407745.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407746.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407747.1:c.-7-9190A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407748.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407749.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407750.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407751.1:c.-8+5835A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407752.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407838.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407839.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407841.1:c.-8+7A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407842.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407843.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407844.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407845.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407846.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407847.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407848.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407849.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407850.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407851.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407852.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407853.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407854.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407858.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407859.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407860.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407861.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407862.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407863.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407874.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407875.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407879.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407881.1:c.-55+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407882.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407884.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407885.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407886.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407887.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407889.1:c.-171+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407894.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407895.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407896.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407897.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407898.1:c.-55+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407899.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407900.1:c.-171+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407902.1:c.-55+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407904.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407906.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407907.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407908.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407909.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407910.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407915.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407916.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407917.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407918.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407919.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407920.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407921.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407922.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407923.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407924.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407925.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407926.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407927.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407928.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407929.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407930.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407931.1:c.-7-9190A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407932.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407933.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407934.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407935.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407936.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407937.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407938.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407939.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407940.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407941.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407942.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407943.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407944.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407945.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407946.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407947.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407948.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407949.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407950.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407951.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407952.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407953.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407954.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407955.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407956.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407957.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407958.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407959.1:c.-170+9554A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407960.1:c.-170+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407962.1:c.-170+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407963.1:c.-170+9548A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407964.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407965.1:c.-286+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407966.1:c.-219+9548A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407967.1:c.-219+9554A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407968.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.80+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.-7-9190A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.-128+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.-171+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.-124+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.-8+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.-170+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.-7-9190A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.-170+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.-55+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007294.4:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007297.4:c.-8+8294A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007300.4:c.134+3A>G - intron variant - [Sequence Ontology: SO:0001627]
- Functional consequence:
- functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.134+3A>G, a SPLICE REGION variant, produced a function score of -0.06, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
Condition(s)
- Name:
- Malignant tumor of breast
- Synonyms:
- Malignant breast neoplasm; Cancer breast
- Identifiers:
- MONDO: MONDO:0007254; MedGen: C0006142
-
hypothetical protein HP0087 [Helicobacter pylori 26695]
hypothetical protein HP0087 [Helicobacter pylori 26695]gi|15644717|ref|NP_206887.1|Protein
-
Homo sapiens tubulin alpha 3e (TUBA3E), RefSeqGene on chromosome 2
Homo sapiens tubulin alpha 3e (TUBA3E), RefSeqGene on chromosome 2gi|2302520047|ref|NG_051288.2|Nucleotide
-
Hydrochus angusi voucher MNCN-AH6 12S ribosomal RNA gene, partial sequence; mito...
Hydrochus angusi voucher MNCN-AH6 12S ribosomal RNA gene, partial sequence; mitochondrialgi|325609580|gb|HM569522.1|Nucleotide
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See more...Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV000591242 | Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)
| no assertion criteria provided | Uncertain significance | unknown | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | unknown | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591242.2
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The BRCA1 c.134+3A>G variant was not identified in the literature nor was it identified in the dbSNP, NHLBI Exome Sequencing Project (Exome Variant Server), Exome Aggregation Consortium (ExAC) database, HGMD, Clinvitae database , LOVD, COSMIC, the ClinVar database , GeneInsight COGR database, the BIC database and UMD. The c.134+3A>G variant is located in the 5' splice region but does not affect the invariant +1 and +2 positions. However, positions +3 to +6 are part of the splicing consensus sequence and variants involving these positions sometimes affect splicing. In addition, 2 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of unknown significance.
| # | 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 | |
Last Updated: Oct 8, 2024