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chr13:32893347 GAAACCATCTTATAATC>G

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.202_217del
Proteinp.K68fs
Functionframeshift del
Localizationexon
hg19chr13:32893347 GAAACCATCTTATAATC>G

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

ClinVar

IDPhenotypeEffect
RCV000456555.1Hereditary breast and ovarian cancer syndromePathogenic
RCV000661737.1Breast-ovarian cancer, familial 2Pathogenic