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chr13:32906565 C>CA

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.951dupA
Proteinp.T317fs
Functionframeshift ins
Localizationexon
hg19chr13:32906565 C>CA
dbSNPrs80359770

Frequency in gnomAD

GenomeExome
MAX–0.00006275
AFR–0
AMR–0
ASJ–0
EAS–0.00006275
FIN–0
NFE–0.00000945
SAS–0

ClinVar

IDPhenotypeEffect
RCV000213917.2not providedPathogenic
RCV000077045.6Breast-ovarian cancer, familial 2Pathogenic
RCV000467638.1Familial cancer of breastPathogenic
RCV000045857.3Hereditary breast and ovarian cancer syndromePathogenic
RCV000166558.4Hereditary cancer-predisposing syndromePathogenic

HGMD

IDPhenotypeEffect
CI033568Breast cancerDM