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chr17:56801398 CAG>C

Annotations

GeneRAD51C
TranscriptNM_058216.2
cDNAr.spl
Protein
Functionsplicing
Localizationsplice site
hg19chr17:56801398 CAG>C
dbSNPrs587781995

Synonyms

TranscriptcDNAProtein
NR_103872.1n.809-2_809-1delAG
NM_002876.3c.*28845_*28846del

Frequency in gnomAD

GenomeExome
MAX–0.00005798
AFR–0
AMR–0
ASJ–0
EAS–0.00005798
FIN–0
NFE–0.000008959
SAS–0.0000325

ClinVar

IDPhenotypeEffect
RCV000130408.5Hereditary cancer-predisposing syndromeLikely pathogenic
RCV000236611.2not providedPathogenic
RCV000526987.2Fanconi anemia, complementation group OPathogenic
RCV000662804.1Likely pathogenic

HGMD

IDPhenotypeEffect
CD159246Ovarian cancerDM