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.

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     
?/? 1i c.-39-26G>A r.(=) p.(=) - kConFab VUS g.32890533G>A g.32316396G>A BRCA2 IVS 1-26 G>A - BRCA2_003755 - kConFab variant classification: UV - - Germline - 19/1658 - 0 - kConFab - Heather Thorne
?/. 1i c.-39-26G>A r.(?) p.(=) - - VUS g.32890533G>A g.32316396G>A - - BRCA2_003755 - Journal: Gao 2020 as reported in: PubMed: Song 2006, Journal: Song 2006, Zhongliang Ma 2008 - - Germline - 2 families/patients - 0 - Xianqi Gao
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