chr13:32889548 C>T
Annotations
GeneBRCA2
TranscriptNM_000059.3
cDNAc.-1050C>T
Protein
Function
Localizationupstream
hg19chr13:32889548 C>T
dbSNPrs563971900
Frequency in gnomAD
GenomeExome
MAX0.0049–
AFR0.0001–
AMR0–
ASJ0–
EAS0–
FIN0.0143–
NFE0.0049–
SAS––
HGMD
IDPhenotypeEffect
CR188004Breast and/or ovarian cancer, predispositionDM?