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chr13:32932019 G>A

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.7758G>A
Proteinp.W2586X
Functionstop gain
Localizationexon
hg19chr13:32932019 G>A
dbSNPrs80359004

Frequency in gnomAD

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

ClinVar

IDPhenotypeEffect
RCV000496860.1Hereditary breast and ovarian cancer syndromePathogenic
RCV000569377.1Hereditary cancer-predisposing syndromePathogenic
RCV000031698.6Breast-ovarian cancer, familial 2Pathogenic
RCV000255811.3not providedPathogenic

HGMD

IDPhenotypeEffect
CM021513Breast and/or ovarian cancerDM