chr13:32913684 ATC>A
Annotations
GeneBRCA2
TranscriptNM_000059.3
cDNAc.5193_5194del
Proteinp.H1731fs
Functionframeshift del
Localizationexon
hg19chr13:32913684 ATC>A
dbSNPrs876660228
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––
HGMD
IDPhenotypeEffect
CD189196Breast and/or ovarian cancerDM