Screening #0000000372

Individual ID 00000357
Template DNA
Technique ?
Tissue -
Remarks -
Variants found? 1
Owner name Ian Tomlinson


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
POLD1 polymerase (DNA directed), delta 1, catalytic subunit 19 q13.3 1 180 129 2019-08-02 CRCS-10, MDPL
POLE polymerase (DNA directed), epsilon, catalytic subunit 12 q24.3 1 315 196 2019-07-12 CRCS-12, Facial dysmorphism, immunodeficiency, livedo, and short stature



Variants found

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

Effect     

AscendingDNA 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     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
19 Unknown ?/? g.50909713G>A g.50406456G>A - - POLD1_000001 - PubMed: Palles et al. 2013 - - Germline - - - - - Ian Tomlinson POLD1 - - - - - 12 NM_001256849.1:c.1433G>A - - r.1433G>A p.Ser478Asn - - - - - - - - - - - - - - - - - - -
Legend