chr13:32968951 C>T
Annotations
GeneBRCA2
TranscriptNM_000059.3
cDNAc.9382C>T
Proteinp.R3128X
Functionstop gain
Localizationexon
hg19chr13:32968951 C>T
dbSNPrs80359212
Frequency in gnomAD
GenomeExome
MAX0.00020.0001
AFR0.00020.0001
AMR00
ASJ00
EAS00
FIN00
NFE00.00000896
SAS–0
HGMD
IDPhenotypeEffect
CM014328Breast cancerDM