chr13:32913729 C>CT
Annotations
GeneBRCA2
TranscriptNM_000059.3
cDNAc.5238dupT
Proteinp.S1746fs
Functionframeshift ins
Localizationexon
hg19chr13:32913729 C>CT
dbSNPrs80359499
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––
HGMD
IDPhenotypeEffect
CI021893Breast and/or ovarian cancerDM