Individual #00195420

ID_report -
Reference -
Remarks child, mental retardation;InSiGHT LOVDv2 ID:10396;
Gender ?
Consanguinity -
Country Netherlands
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Carli Tops
Database submission license No license selected
Created by Carli Tops
Date created 2008-08-22 12:12:00 +02:00 (CEST)
Date last edited N/A


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000196390 DNA MLPA;MAPH - - MSH2, MSH6 2 Carli Tops



Variants

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

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
2 Unknown +/. - pathogenic g.(?_47630206)_(47710367_?)del - del MSH2 ex1_16, delTACSTD1-15,-27, del MSH6 - MSH2_000043 - - - - Germline - - - - - Carli Tops MSH2 - - - - _1_16_ NM_000251.2:c.(?_-125)_(*279_?)del - r.0? p.0? - - - - - - - - - - - - - -
2 Unknown +/. - pathogenic g.(?_48010221)_(48034092_?)del - del MSH2 ex1_16, delTACSTD1-15,-27, del MSH6 - MSH6_000911 - - - - Germline - - - - - Carli Tops MSH6 - - - - _1_10_ NM_000179.2:c.(?_-152)_(*93_?)del - r.? p.? - - - - - - - - - - - - - -
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