Full data view for gene POLD1

Information The variants shown are described using the NM_001256849.1 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

InSiGHT Class     

Allele     

DNA change (genomic) (hg19)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Date     

Template     

Technique     

Tissue     

Method     

Disease     

Reference     

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Geographic origin     

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Family History     

Pedigree information available     

Selection criteria for proband testing     

Panel size     

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