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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. 1 c.-107A>T r.0? p.0? B1 - pathogenic g.41277375T>A g.43125358T>A - - BRCA1_005077 - Journal: Evans 2018 - - Germline yes - - 0 - Elke M van Veen
+/. 1 c.-107A>T r.0? p.0? B1 - pathogenic g.41277375T>A g.43125358T>A - - BRCA1_005077 - Journal: Evans 2018 - - Germline yes - - 0 - Elke M van Veen
+/. - c.-107A>T r.? p.? - ACMG pathogenic (dominant) g.41277375T>A g.43125358T>A - - BRCA1_005077 - PubMed: Evans 2022 - - Germline - - - 0 - Johan den Dunnen
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