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chr13:32900279 A>AT

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.468dupT
Proteinp.D156fs
Functionframeshift ins
Localizationexon
hg19chr13:32900279 A>AT
dbSNP

Frequency in gnomAD

GenomeExome
MAX0.0000666–
AFR0–
AMR0–
ASJ0–
EAS0–
FIN0–
NFE0.0000666–
SAS––

ClinVar

IDPhenotypeEffect
RCV000661784.1Breast-ovarian cancer, familial 2Pathogenic