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chr13:32911442 G>GA

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.2951dupA
Proteinp.E984fs
Functionframeshift ins
Localizationexon
hg19chr13:32911442 G>GA
dbSNPrs80359365

Frequency in gnomAD

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

ClinVar

IDPhenotypeEffect
RCV000044094.8Hereditary breast and ovarian cancer syndromePathogenic
RCV000160274.5not providedPathogenic
RCV000077700.5Breast-ovarian cancer, familial 2Pathogenic
RCV000213454.3Hereditary cancer-predisposing syndromePathogenic

HGMD

IDPhenotypeEffect
CI063656Breast cancerDM