All variants in the BRCA2 gene

All records describing functional studies of specific variants.
BRCA2 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_000059.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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     
+/+ _1_13i c.-227_(7007+1_7008-1){0} r.0? p.0? - - pathogenic g.(?_32889617)_(32921034_32928997)del - - - BRCA2_001624 - - - - Unknown ? - - - - Frans BL Hogervorst
+/. _1_13i c.-227_(7007+1_7008-1){0} r.0? p.0? - - pathogenic g.(?_32889617)_(32921034_32928997)del - c.-227-?_7007+?del - BRCA2_001624 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_13i c.-227_(7007+1_7008-1){0} r.0? p.0? - - pathogenic g.(?_32889617)_(32921034_32928997)del - c.-227-?_7007+?del - BRCA2_001624 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
Legend   How to query