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chr13:32912171 CTGAA>C

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.3680_3683del
Proteinp.L1227fs
Functionframeshift del
Localizationexon
hg19chr13:32912171 CTGAA>C

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

ClinVar

IDPhenotypeEffect
RCV000113206.3Breast-ovarian cancer, familial 2Pathogenic
RCV000509866.1Hereditary cancer-predisposing syndromePathogenic