Individual #00000142

ID_report -
Reference PubMed: Marrakchi 2011
Remarks 5-generation family, 1 affected
Gender M
Consanguinity yes
Country Tunisia
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases PSORS
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2012-07-07 19:59:04 +02:00 (CEST)
Date last edited 2012-07-08 17:43:47 +02:00 (CEST)


Phenotypes

psoriasis, pustular, generalized (PSORS) (PSORS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000000010 - - Familial, autosomal recessive - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000128 DNA;RNA RT-PCR;SEQ - - IL36RN 1 Johan den Dunnen



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     

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 Both (homozygous) +/? - pathogenic g.113818479T>C g.113060902T>C - - IL36RN_000004 - PubMed: Marrakchi 2011, OMIM:var0001 - - Germline yes - - - - Johan den Dunnen IL36RN - - - - 3 NM_173170.1:c.80T>C - r.80u>c p.Leu27Pro - - - - - - - - - - - - - -
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