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chr13:32907434 A>T

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.1819A>T
Proteinp.K607X
Functionstop gain
Localizationexon
hg19chr13:32907434 A>T

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

ClinVar

IDPhenotypeEffect
RCV000496499.1Hereditary breast and ovarian cancer syndromePathogenic
RCV000077668.5Breast-ovarian cancer, familial 2Pathogenic