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chr13:32914939 T>TA

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.6448dupA
Proteinp.I2149fs
Functionframeshift ins
Localizationexon
hg19chr13:32914939 T>TA
dbSNPrs1010863706

Frequency in gnomAD

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

ClinVar

IDPhenotypeEffect
RCV000113593.3Breast-ovarian cancer, familial 2Pathogenic
RCV000044960.4Hereditary breast and ovarian cancer syndromePathogenic
RCV000219921.2Hereditary cancer-predisposing syndromePathogenic

HGMD

IDPhenotypeEffect
CI022585Breast and/or ovarian cancerDM?