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.
Legend   How to query  

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     
?/. - c.*31G>A r.(?) p.? - - VUS g.41197664C>T g.43045647C>T - - BRCA1_005426 - PubMed: Dong 2021 - rs776323505 Germline - 3/11386 controls - 0 - Johan den Dunnen
?/. - c.*31G>A r.(?) p.(=) - - VUS g.41197664C>T g.43045647C>T 5711+31G>A, 5592*31G>A - BRCA1_005426 - PubMed: Bhaskaran 2019 - (refs 2) - - Germline - 1/130 cases - 0 - Johan den Dunnen
Legend   How to query