Individual #00173809

ID_report 28874130-Fam
Reference PubMed: Rossi 2017
Remarks family
Gender -
Consanguinity -
Country Chile
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     

Age/Examination     

Age/Diagnosis     

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Phenotype/Onset     

Protein     

Diagnosis/Criteria     

Tumor/MSI     

Owner     
0000138663 see paper; … Lynch syndrome HNPCC-8 Familial, autosomal dominant - - - - - - - Mamata Sivagnanam



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174700 DNA SEQ - - EPCAM 1 Mamata Sivagnanam



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     

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Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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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     

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Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
2 Unknown +/. g.(?_47596644)_(47643569_47656880)del g.? - - EPCAM_000005 - PubMed: Rossi 2017 - - Germline - - - 0 - Mamata Sivagnanam EPCAM, MSH2 - - - - - _1_9_, _1_6i NM_002354.2:c.(?_-1)_(*1_?)del, NM_000251.2:c.(?_-1)_(1076+1_1077-1)del - pathogenic (dominant) r.0, r.0? p.0, p.0? - - - - - - - - - - - - - - - - - - -
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