Individual #00114931

ID_report 19377303-Pat?
Reference PubMed: Tarpey 2009
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av for details contact Lucy Raymond (flr24 @ cam.ac.uk)
Treatment -
Panel size 1
Diseases DEE2
Owner name Lucy Raymond
Database submission license No license selected
Created by Lucy Raymond
Date created 2010-10-24 14:36:15 +02:00 (CEST)
Date last edited 2018-07-30 11:20:38 +02:00 (CEST)


Phenotypes

encephalopathy, developmental and epileptic, type 2 (DEE2)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000090391 - Unknown - - - - - early epilepsy; encephalopathy - Emmelien Aten



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115344 DNA SEQ - - CDKL5 1 Lucy Raymond



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     
X Parent #1 +/. - pathogenic g.18598037C>T g.18579917C>T - - CDKL5_000015 - PubMed: Bahi-Buisson - - Germline - - - - - Emmelien Aten CDKL5 - - - - 6 NM_003159.2:c.352C>T - r.(?) p.(Q118*) - - - - - - - - - - - - - -
Legend   How to query  


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