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chr13:32913971 A>G

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.5479A>G
Proteinp.I1827V
Functionmissense
Localizationexon
hg19chr13:32913971 A>G

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

ClinVar

IDPhenotypeEffect
RCV000044669.5Hereditary breast and ovarian cancer syndromeVUS
RCV000562248.1Hereditary cancer-predisposing syndromeVUS
RCV000482352.1not specifiedVUS
RCV000113437.1Breast-ovarian cancer, familial 2VUS

HGMD

IDPhenotypeEffect
CM1619552Breast and/or ovarian cancerDM?