Individual #00019821

ID_report -
Reference PubMed: Elsayed 2015, Journal: Elsayed 2015
Remarks -
Gender M
Consanguinity -
Country Netherlands
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases CRC, NF-1
Owner name Tom van Wezel


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     
0000017576 - Familial 30y - - - - 30y MSI caecum adenocarcinoma; 15y astrocytoma, presumably as a consequence of neurofibromatosis - - - - - - - Tom van Wezel



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019808 DNA TaqMan - - POLE 1 Tom van Wezel



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     
12 Maternal (confirmed) +?/. g.133250250G>C - - - POLE_000001 - PubMed: Elsayed 2015, Journal: Elsayed 2015 - - Germline - 1/1188 cases - 0 - Tom van Wezel POLE - - - - - 13 NM_006231.2:c.1270C>G - - r.(?) p.(Leu424Val) - - - - - - - - - - - - - - - - - - -
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