Individual #00152610

ID_report -
Reference PubMed: van Reeuwijk 2007
Remarks unaffected carrier parents second degree cousins; brother of 17436019.1
Gender M
Consanguinity -
Country Saudi Arabia
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases WWS
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

Walker-Warburg syndrome (WWS) (WWS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000125548 phenotype see paper; CPK 180x Walker-Warburg syndrome (WWS) MDDGA-6 Isolated (sporadic) - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153468 DNA MAPH;MLPA - - LARGE 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     

Codon change     

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/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
22 Both (homozygous) -/. - benign g.33735176_33798267del g.33339190_33402281del - - LARGE_000003 deletion 63 Kb PubMed: van Reeuwijk 2007, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen LARGE - - - - - 8i NM_004737.4:c.893-17976_1132-1388del - r.(ex09ex10del) p.delfs*? - - - - - - - - - - - - - - - - - - -
Legend   How to query