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chr13:32914069 T>TA

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.5578dupA
Proteinp.I1859fs
Functionframeshift ins
Localizationexon
hg19chr13:32914069 T>TA
dbSNPrs397507790

Frequency in gnomAD

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

ClinVar

IDPhenotypeEffect
RCV000241509.2Breast-ovarian cancer, familial 2Pathogenic
RCV000044687.5Hereditary breast and ovarian cancer syndromePathogenic
RCV000166213.2Hereditary cancer-predisposing syndromePathogenic

HGMD

IDPhenotypeEffect
CI129035Breast cancerDM