Individual #00050150

ID_report -
Reference PubMed: Isidor 2016, Journal: Isidor 2016
Remarks healthy younger sister
Gender F
Consanguinity no
Country United Kingdom (Great Britain)
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ID
Owner name Sébastien Küry
Database submission license No license selected
Created by Sébastien Küry
Date created 2015-09-26 21:24:44 +02:00 (CEST)
Date last edited 2016-10-14 10:56:26 +02:00 (CEST)


Phenotypes

intellectual disability (ID) (ID)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Phenotype details     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000036762 - - Isolated (sporadic) no growth failure, normal behaviour, eye anomalies, no skeletal abnormalities, facial dysmorphism; birth at term; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); severe speech delay (HP:0000750) - - - - - Sébastien Küry



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050095 DNA SEQ;SEQ-NG-I - - CHAMP1 1 Sébastien Küry



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     
13 Unknown +/. - pathogenic g.115090806C>T g.114325331C>T - - CHAMP1_000008 de novo in patient PubMed: Isidor 2016, Journal: Isidor 2016 - - De novo - - - - - Sébastien Küry CHAMP1 - - - - 3 NM_032436.2:c.1489C>T - r.(?) p.(Arg497*) - - - - - - - - - - - - - -
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