chr13:32915082 CTG>C
Annotations
GeneBRCA2
TranscriptNM_000059.3
cDNAc.6591_6592del
Proteinp.T2197fs
Functionframeshift del
Localizationexon
hg19chr13:32915082 CTG>C
dbSNPrs80359605
Frequency in gnomAD
GenomeExome
MAX–0.0000341
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0
SAS–0.0000341
HGMD
IDPhenotypeEffect
CD951628Breast cancerDM