All variants in the BRCA1 gene

All records describing functional studies of specific variants. BRCA1 variants classified by the ENIGMA consortium.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_007294.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 10 c.594_597del r.(?) p.(Ser198Argfs*35) FA - pathogenic g.41247937_41247940del g.43095920_43095923del - - BRCA1_001301 - PubMed: Sawyer et al. 2015 - - Germline - - - 0 - Arleen D. Auerbach
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) FA - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Sawyer et al. 2015 - - Germline - - - 0 - Arleen D. Auerbach
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