Individual #00111381

ID_report -
Reference {microatt:1003310, Desiree du Sart}
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name INSiGHT group


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000087466 - - Unknown - - tumor IHC: MLH1: Negative MSH2: Negative MSH6: Negative - - - - - INSiGHT group



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000111846 DNA MLPA - - EPCAM 1 INSiGHT group



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 Unknown +/. g.(47600710_47600946)_(47710089_?)del - deletion EPCAM exon 3 to MSH2 exon 16 (*272_?) - EPCAM_000006 - Desiree du Sart - - Germline - - - 0 - INSiGHT group EPCAM, MSH2 - - - - - 2i_9_, _1_16_ NM_002354.2:c.(184+1_185-1)_(*415_?)del, NM_000251.2:c.0 - pathogenic r.?, r.0 p.?, p.0 - - - - - - - - - - - - - - - - - - -
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