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     
./. 16 c.2192del r.(?) p.(Gly731Glufs*6) - VUS g.39304693del g.39303073del 2191delA - RFC1_000001 - PubMed: Lhota 2016 - - Germline - - - 0 - Zdenek Kleibl
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