Screening #0000165179

Individual ID 00164312
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Mamata Sivagnanam


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
EPCAM epithelial cell adhesion molecule 2 p21 1 232 90 2019-10-26 DIAR-5, HNPCC, HNPCC-1 (Lynch), HNPCC-8



Variants found

2 entries on 1 page. Showing entries 1 - 2.
Legend  

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 Parent #1 +/. g.47602439G>A - - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam EPCAM - - - - - 4i NM_002354.2:c.491+1G>A - pathogenic r.426_491del p.Trp143_Thr164del - - - - - - - - - - - - - - - - - - -
2 Parent #2 +/. g.47606078A>G - - - EPCAM_000007 - Sivagnanam, submitted - - Germline - - - 0 - Mamata Sivagnanam EPCAM - - - - - 5i NM_002354.2:c.556-14A>G - pathogenic r.spl p.(Tyr186_Asp219del) - - - - - - - - - - - - - - - - - - -
Legend