Individual #00173758

ID_report 22388758-Pat1/2
Reference PubMed: Huth 2012
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at 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     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Diagnosis/Criteria     

Tumor/MSI     

Owner     
0000138612 see paper; … Lynch syndrome HNPCC-8 Familial, autosomal dominant - - - - - - - Mamata Sivagnanam



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174649 DNA SEQ - - EPCAM 1 Mamata Sivagnanam



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
2 Unknown +/. - pathogenic (dominant) g.? g.? - - EPCAM_000000 - PubMed: Huth 2012 - - Germline - - - 0 - Mamata Sivagnanam EPCAM - - - - - _7_9_ NM_002354.2:c.? - r.? p.? - - - - - - - - - - - - - - - - - - - -
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