Individual #00296584

ID_report Pat17
Reference PubMed: Kemp 2011, PubMed: Taylor 2014
Remarks -
Gender M
Consanguinity -
Country United Kingdom (Great Britain)
Population British
Age at death 6m
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ?
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 2020-04-08 15:05:07 +02:00 (CEST)
Date last edited N/A


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000223990 multiple mitochondrial respiratory chain complex deficiency - deceased; muscle affected; central nervous system affected; heart not affected; liver affected; failure to thrive, fatty liver, lactic acidosis, leukoenceph, absence corpus callosum Unknown 6m - 2m - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000297694 DNA SEQ;SEQ-NG - WES - 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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     
16 Parent #2 +/. - pathogenic (recessive) g.23546353C>T g.23535032C>T - - EARS2_000015 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen EARS2 - - - - - NM_001083614.1:c.814G>A - r.(?) p.(Ala272Thr) - - - - - - - - - - - - - -
16 Parent #1 +/. - pathogenic (recessive) g.23555998G>A g.23544677G>A - - EARS2_000008 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen EARS2 - - - - - NM_001083614.1:c.322C>T - r.(?) p.(Arg108Trp) - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.