Individual #00114918

ID_report 19377295-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 3
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     
0000090382 - Unknown - - - - - EIEE2 - Emmelien Aten



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115337 DNA SEQ - - CDKL5 3 Lucy Raymond



Variants

3 entries on 1 page. Showing entries 1 - 3.
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     
X Parent #1 -/. - benign g.18582659A>G g.18564539A>G 144+17A>G - CDKL5_000012 conserved haplotype 1/32 patients, 2/267 control X-chromosomes PubMed: Tao 2004 - - Germline - - - - - Emmelien Aten CDKL5 - - - - 4i NM_003159.2:c.145+17A>G - r.(?) p.(=) - - - - - - - - - - - - - -
X Parent #1 -/. - benign g.18671574C>T g.18653454C>T H1001H - CDKL5_000004 conserved haplotype 1/32 patients, 2/267 control X-chromosomes PubMed: Tao 2004 - - Germline - - - - - Emmelien Aten CDKL5 - - - - 21 NM_003159.2:c.3003C>T - r.(?) p.(His1001=) - - - - - - - - - - - - - -
X Parent #1 -/. - benign g.18671655G>T g.18653535G>T T1028T - CDKL5_000005 conserved haplotype 1/32 patients, 2/267 control X-chromosomes PubMed: Tao 2004 - - Germline - - - - - Emmelien Aten CDKL5 - - - - 21 NM_003159.2:c.3084G>T - r.(?) p.(Thr1028=) - - - - - - - - - - - - - -
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