Individual #00173756

ID_report 26613680-Pat1
Reference PubMed: Eguchi 2015
Remarks -
Gender -
Consanguinity -
Country Japan
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HNPCC-8
Owner name Mamata Sivagnanam


Phenotypes

cancer, colorectal, nonpolyposis, hereditary, type 8 (HNPCC-8) (HNPCC-8)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

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Tumor/MSI     

Owner     
0000138610 see paper; … Lynch syndrome HNPCC-8 Familial, autosomal dominant - - - - - - - Mamata Sivagnanam



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174647 DNA SEQ - - EPCAM 1 Mamata Sivagnanam



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

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Methylation     

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Codon change     

IDbase Accession Number     

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Exon     

DNA change (cDNA)     

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ClassClinical     

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Exon_old     

DNA/Legacy     

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Predict/AGVGD     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

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Protein level     
2 Unknown g.47611613_47615743del g.47384474_47388604del 859-672_*2170del - EPCAM_000065 4130 bp deletion C_AluSx1 to C_AluSq2; MSH2 gene not expressed (methylated) PubMed: Eguchi 2015 - - Germline - - - 0 allele methylated Mamata Sivagnanam EPCAM, MSH2 +/. - - - - - 7i_9_, NM_002354.2:c.859-692_*1991del, NM_000251.2:c.= - pathogenic (dominant), pathogenic r.?, r.0 p.?, p.0 - - - - - - - - - - - - - - - - - - -
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