Individual #00274214

ID_report Patient 15 Kuechler 2015
Reference PubMed: Kuechler 2015
Remarks -
Gender F
Consanguinity no
Country -
Population -
Age at death 03y03m (3 years, 3 months)
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ID
Owner name Dimitra Ilektra Lerou
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Dimitra Ilektra Lerou
Date created 2019-12-24 21:47:14 +01:00 (CET)
Date last edited 2023-02-23 09:56:23 +01:00 (CET)


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     
0000209160 Intellectual Disability Intellectual Disability Isolated (sporadic) Motor delay HP:0001270; Truncal ataxia HP:0002078; Limb hypertonia HP:0002509; intellectual disability (HP:0001249); global developmental delay (HP:0001263); neurodevelopmental delay (HP:0012758);developmental regression (HP:0002376); developmental stagnation (HP:0007281); loss of speech (HP:0002371); incomprehensible speech (HP:0002546) 00y02m 00y02m 00y02m - - Dimitra Ilektra Lerou



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000275371 DNA SEQ-NG-I ? - CTNNB1 1 Dimitra Ilektra Lerou



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     
3 Unknown +/. - pathogenic g.41275106_41275109del g.41233615_41233618del 1272_1275delTTCT - CTNNB1_000083 - PubMed: Kuechler 2015 - - De novo yes - - - - Dimitra Ilektra Lerou CTNNB1 - - - - - NM_001904.3:c.1272_1275del - r.(?) p.(Ser425Thrfs*11) - - - - - - - - - - - - - -
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