chr13:32913771 C>G
Annotations
GeneBRCA2
TranscriptNM_000059.3
cDNAc.5279C>G
Proteinp.S1760X
Functionstop gain
Localizationexon
hg19chr13:32913771 C>G
dbSNPrs80358751
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––
HGMD
IDPhenotypeEffect
CM119491Breast and/or ovarian cancerDM