Individual #00000360

ID_report -
Reference PubMed: Palles 2013
Remarks -
Gender -
Consanguinity no
Country United Kingdom (Great Britain)
Population Northern European
Age/Death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases CRC
Owner name Ian Tomlinson


Phenotypes

cancer, colorectal (CRC) (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Cysts     

Diagnosis/Original     

Eye/Retina     

Neoplasm     

Owner     
0000000050 - Familial, autosomal dominant - - - - - Colorectal carcinoma - - - - - - - Ian Tomlinson



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000375 DNA ? - - POLD1, POLE Not yet submitted Ian Tomlinson
0000000376 DNA ? - - POLD1, POLE Not yet submitted Ian Tomlinson
0000000377 DNA ? - - POLD1, POLE 1 Ian Tomlinson



Variants

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     
12 Unknown +?/+? g.133250250C>G - - - POLE_000001 - {PMID:Palles et al10.1038/ng.2503} - - Germline - - - - - Ian Tomlinson POLE - - - - - 12 NM_006231.2:c.1270C>G - - r.(?) p.(Leu424Val) - - - - - - - - - - - - - - - - - - -
Legend