Individual #00438588

ID_report HSC0037
Reference PubMed: Hamdan 2017
Remarks WGS analysis 197 individuals with unexplained DEE (unaffected parents)
Gender -
Consanguinity -
Country Canada
Population -
Age at death -
VIP -
Data_av -
Treatment pharmaco-resistant seizures
Panel size 1
Diseases DEE
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 2023-10-21 19:20:17 +02:00 (CEST)
Date last edited 2023-10-21 22:11:13 +02:00 (CEST)


Phenotypes

encephalopathy, developmental and epileptic (DEE)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000328491 developmental and epileptic encephalopathy - - Unknown - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000440070 DNA SEQ;SEQ-NG - WGS - 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
7 Unknown ?/. - VUS g.73452048G>A - NM_001278939:c.G175A (G59R) - ELN_000186 - PubMed: Hamdan 2017 - - De novo - - - - - Johan den Dunnen ELN - - - - - NM_000501.2:c.175G>A - r.(?) p.(Gly59Arg) - - - - - - - - - - - - - -
12 Unknown ?/. - VUS g.133428285C>T - NM_018223:c.G1324A (A442T) - CHFR_000003 - PubMed: Hamdan 2017 - - De novo - - - - - Johan den Dunnen CHFR - - - - - NM_001161344.1:c.1447G>A - r.(?) p.(Ala483Thr) - - - - - - - - - - - - - -
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