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chr13:32914953 ATC>A

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.6462_6463del
Proteinp.Y2154fs
Functionframeshift del
Localizationexon
hg19chr13:32914953 ATC>A

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

HGMD

IDPhenotypeEffect
CD972086Breast cancerDM