View unique variants in gene POLD1

Information The variants shown are described using the NM_001256849.1 transcript reference sequence. Please consider searching ClinVar and UMD

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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

InSiGHT Class     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Owner     
./. 1 - c.55C>T r.(?) p.(Arg19Cys) - g.50902163C>T Spier et al, 2015 POLD1_000001 - Variant not included in penetrance analysis. Germline (inherited) - Daniel D Buchanan
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