All variants in the RFC1 gene

Information The variants shown are described using the NM_002913.4 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 2i c.132+2869_132+2925CTTTT[(15_200)] r.(=) p.(=) - benign g.39350043_39350099AAAAG[(15_200)] g.39348423_39348479AAAAG[(15_200)] - - RFC1_000015 - PubMed: Cortese 2019 - - Germline - 79/608 chromosomes - 0 - Johan den Dunnen
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