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


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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