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chr13:32950929 G>A

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.8754+1G>A
Protein
Functionsplicing
Localizationsplice site
hg19chr13:32950929 G>A
dbSNPrs397508006

Frequency in gnomAD

GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––

ClinVar

IDPhenotypeEffect
RCV000582129.1Hereditary cancer-predisposing syndromePathogenic
RCV000239149.1Breast-ovarian cancer, familial 2Pathogenic

HGMD

IDPhenotypeEffect
CS083218Breast cancerDM