Individual #00111384

ID_report -
Reference PubMed: Ligtenberg et al., 2009
Remarks -
Gender -
Consanguinity -
Country China
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases CRC
Owner name Johan den Dunnen


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     

Eye/Retina     

Neoplasm     

Owner     
0000087469 - Familial - - - - - colon cancer - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000111849 DNA MLPA;PCR;SEQ - - EPCAM 1 Johan den Dunnen



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     
2 Parent #1 +/. g.47605142_47627978del g.47378003_47400839del c.555+894_*14194del - EPCAM_000002 haplotype differs from FamHK-A; fusion transcript EPCAM/MSH2 PubMed: Ligtenberg 2009 - - Germline - - - 0 - Johan den Dunnen EPCAM, MSH2 - - - - - 5i_9_, _1 NM_002354.2:c.555+926_*14226del, NM_000251.2:c.-25189_-2353del - pathogenic r.556_*405delinsNM_000251.2:c.212_*272, r.-125_211delinsNM_002354.2:-358_555] p.Tyr186Glufs*13, p.? - - - - - - - - - - - - - - - - - - -
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