chr13:32914437 GT>G
Annotations
GeneBRCA2
TranscriptNM_000059.3
cDNAc.5946delT
Proteinp.S1982fs
Functionframeshift del
Localizationexon
hg19chr13:32914437 GT>G
dbSNPrs80359550
Frequency in gnomAD
GenomeExome
MAX0.00020.00006277
AFR00
AMR00
ASJ0.00660.0058
EAS00
FIN00
NFE0.00020.00006277
SAS–0
HGMD
IDPhenotypeEffect
CD961857Breast cancerDM