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chr13:32914437 GT>G

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.5946delT
Proteinp.S1982fs
Functionframeshift del
Localizationexon
hg19chr13:32914437 GT>G

Frequency in gnomAD

GenomeExome
MAX0.00020.00006277
AFR00
AMR00
ASJ0.00660.0058
EAS00
FIN00
NFE0.00020.00006277
SAS0

HGMD

IDPhenotypeEffect
CD961857Breast cancerDM