Screening #0000111894

Individual ID 00111430
Template DNA
Technique MLPA
Tissue -
Remarks -
Variants found? 1
Owner name Nancy Uhrhammer


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
EPCAM epithelial cell adhesion molecule 2 p21 1 226 89 2019-03-27 DIAR-5, HNPCC, HNPCC-1 (Lynch), HNPCC-8
MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) 3 p22.3 1 9587 1513 2019-08-02 HNPCC, HNPCC-1 (Lynch), HNPCC-2, MMRCS, MRTES, Adenoma sebaceum
MSH2 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) 2 p21 1 7700 1377 2019-08-15 HNPCC, HNPCC-1 (Lynch), MMRCS, MRTES, Adenoma sebaceum
MSH6 mutS homolog 6 (E. coli) 2 p16 1 3665 924 2019-07-31 HNPCC, HNPCC-1 (Lynch), HNPCC-5, MMRCS, Adenoma sebaceum, cancer, endometrial



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)_(47613753_47630323)del - - - EPCAM_000087 Suppresses expression of MSH2 - - - Germline - - - 0 - Nancy Uhrhammer EPCAM, MSH2 - - - - - 8i_9_, _1 NM_002354.2:c.(903+1_904-1)_(*1_?)del, NM_000251.2:c.? - pathogenic r.? p.? - - - - - - - - - - - - - - - - - - -
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