Log in
HomeVariants

chr13:32911788 C>A

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.3296C>A
Proteinp.S1099X
Functionstop gain
Localizationexon
hg19chr13:32911788 C>A

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

HGMD

IDPhenotypeEffect
CM1716892CancerDM