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chr13:32911388 ACT>A

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.2897_2898del
Proteinp.T966fs
Functionframeshift del
Localizationexon
hg19chr13:32911388 ACT>A
dbSNPrs80359361

Frequency in gnomAD

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

ClinVar

IDPhenotypeEffect
RCV000113112.3Breast-ovarian cancer, familial 2Pathogenic
RCV000131098.3Hereditary cancer-predisposing syndromePathogenic

HGMD

IDPhenotypeEffect
CD113630Fanconi anaemiaDM