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chr13:32929238 TCA>T

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.7249_7250del
Proteinp.H2417fs
Functionframeshift del
Localizationexon
hg19chr13:32929238 TCA>T

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

HGMD

IDPhenotypeEffect
CD044133Breast and/or ovarian cancerDM