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chr17:56770093 CG>C

Annotations

GeneRAD51C
TranscriptNM_058216.2
cDNAc.90delG
Proteinp.A30fs
Functionframeshift del
Localizationexon
hg19chr17:56770093 CG>C

Synonyms

TranscriptcDNAProtein
NM_002876.3c.90delGp.A30fs
NR_103873.1n.113+51delG
NR_103872.1n.164delG

Frequency in gnomAD

GenomeExome
MAX00.00007162
AFR00
AMR00
ASJ00
EAS00
FIN0.00030.0002
NFE00.00007162
SAS0

ClinVar

IDPhenotypeEffect
RCV000212931.1not providedPathogenic
RCV000587817.1Hereditary breast and ovarian cancer syndromePathogenic
RCV000160936.5Hereditary cancer-predisposing syndromePathogenic
RCV000024266.3Breast-ovarian cancer, familial 3Risk factor
RCV000576723.1Pathogenic
RCV000205375.4Fanconi anemia, complementation group OPathogenic

HGMD

IDPhenotypeEffect
CD116092Ovarian cancerDM