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chr13:32906915 AAAAG>A

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.1301_1304del
Proteinp.K434fs
Functionframeshift del
Localizationexon
hg19chr13:32906915 AAAAG>A
dbSNPrs80359277

Frequency in gnomAD

GenomeExome
MAX–0.00006616
AFR–0.00006616
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0
SAS–0

ClinVar

IDPhenotypeEffect
RCV000031318.14Breast-ovarian cancer, familial 2Pathogenic
RCV000203644.7Hereditary breast and ovarian cancer syndromePathogenic
RCV000131062.5Hereditary cancer-predisposing syndromePathogenic
RCV000043779.9not providedPathogenic

HGMD

IDPhenotypeEffect
CD972071Breast cancerDM