Screening #0000111854

Individual ID 00111389
Template DNA
Technique MLPA
Tissue -
Remarks -
Variants found? 1
Owner name INSiGHT group


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
EPCAM epithelial cell adhesion molecule 2 p21 1 233 90 2019-10-26 DIAR-5, HNPCC, HNPCC-1 (Lynch), HNPCC-8



Variants found

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.(47612350_47613710)_(47643569_47656880)del - deletion EPCAM exon 9 to MSH2 exon 6 - EPCAM_000005 - - - - Germline - - - 0 - INSiGHT group EPCAM, MSH2 - - - - - 8i_9_, _1_6i NM_002354.2:c.(903+1_904-1)_(*1_?)del, NM_000251.2:c.(?_-1)_(1076+1_1077-1)del - pathogenic, VUS r.? p.? - - - - - - - - - - - - - - - - - - -
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