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.
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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     
?/. - c.*15G>A r.(?) p.? - - VUS g.32972922G>A g.32398785G>A - - BRCA2_002272 - PubMed: Dong 2021 - rs376501142 Germline - 1/11386 controls - 0 - Johan den Dunnen
?/? 27 c.*15G>A r.(=) p.(=) - - VUS g.32972922G>A g.32398785G>A - - BRCA2_002272 - - - - Unknown - - - 0 - Juul Wijnen
?/. - c.*15G>A r.(=) p.(=) - - VUS g.32972922G>A g.32398785G>A BRCA2(NM_000059.3):c.*15G>A - BRCA2_002272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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