Individual #00152646

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country United States
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases WWS
Owner name Tom Winder
Database submission license No license selected
Created by Tom Winder


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     
0000125575 - Walker-Warburg syndrome (WWS) MDDGA-6 Unknown - - - - - Tom Winder



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153504 DNA PCR;SEQ - - LARGE 1 Tom Winder



Variants

1 entry on 1 page. Showing entry 1.
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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     

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) ?/. - VUS g.33712193_33712194delinsAT g.33316207_33316208delinsAT - - LARGE_000020 - - - - Germline - - - 0 - Tom Winder LARGE - - - - - 12 NM_004737.4:c.1328_1329delinsAT - r.(?) p.(Cys443Tyr) - - - - - - - - - - - - - - - - - - -
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