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chr13:32968950 G>A

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.9381G>A
Proteinp.W3127X
Functionstop gain
Localizationexon
hg19chr13:32968950 G>A

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

ClinVar

IDPhenotypeEffect
RCV000229281.2Hereditary breast and ovarian cancer syndromePathogenic
RCV000568965.1Hereditary cancer-predisposing syndromePathogenic
RCV000219823.1not providedPathogenic
RCV000256847.2Breast-ovarian cancer, familial 2Pathogenic