Individual #00248130

ID_report -
Reference PubMed: Liskova 2013
Remarks -
Gender -
Consanguinity -
Country Czech Republic
Population white
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases PPCD
Owner name Cerys Evans
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-07-29 18:31:53 +02:00 (CEST)
Date last edited N/A


Phenotypes

dystrophy, corneal, posterior polymorphous (PPCD) (PPCD)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000187133 posterior polymorphous corneal dystrophy PPCD-3 - Unknown - - - - - Cerys Evans



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000249235 DNA SEQ - - ZEB1 1 Cerys Evans



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     

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     
10 Unknown +/. - pathogenic g.31812876dup g.31523948dup - - ZEB1_000047 - PubMed: Liskova 2013 - - Germline/De novo (untested) - - - - - Cerys Evans ZEB1 - - - - - NM_030751.5:c.2617dup - r.(?) p.(Thr873Asnfs*2) - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.