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chr13:32950854 C>T

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.8680C>T
Proteinp.Q2894X
Functionstop gain
Localizationexon
hg19chr13:32950854 C>T

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

HGMD

IDPhenotypeEffect
CM077919Breast cancerDM