Individual #00111387

ID_report -
Reference PubMed: Ligtenberg et al., 2009
Remarks -
Gender -
Consanguinity -
Country Netherlands
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     

Diagnosis/Original     

Eye/Retina     

Neoplasm     

Owner     
0000087472 - Familial - - - - - colon cancer; tumor IHC: MSH2- - - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000111852 DNA MLPA;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.47610843_47615751del g.47383704_47388612del c.859-1462_*1999del - EPCAM_000001 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes; wt allele lost in tumor PubMed: Ligtenberg 2009 - - Germline - - - 0 - Johan den Dunnen EPCAM, MSH2 - - - - - 7i_9_, _1 NM_002354.2:c.859-1462_*1999del, NM_000251.2:c.-19488_-14580del - pathogenic r.[859_*405delinsNM_000251.2:c.212_*272, 859_*405delinsNM_000251.2:c.-4237_-4127ins212_*272], r.? p.[Val287GlufsX13, Val287_Ala314delins37insMSH2:Ala72_Thr934], p.? - - - - - - - - - - - - - - - - - - -
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