Individual #00048021

ID_report -
Reference PubMed: Jansen 2015, Journal: Jansen 2015
Remarks -
Gender -
Consanguinity -
Country Netherlands
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases CRC
Owner name Anne Jansen


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000048147 DNA SEQ-NG-I - - POLE 1 Anne Jansen



Variants

1 entry on 1 page. Showing entry 1.
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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.50905989G>A g.50402732G>A - - POLD1_000005 - PubMed: Jansen 2015, Journal: Jansen 2015 - rs41554817 Germline - - - 0 - Anne Jansen POLD1 - - - - - 8 NM_001256849.1:c.961G>A - - r.(?) p.(Gly321Ser) - - - - - - - - - - - - - - - - - - -
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