Individual #00080896

ID_report -
Reference PubMed: Trujillano 2017
Remarks unaffected non-carrier parents
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PDHAD
Owner name Daniel Trujillano
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

pyruvate dehydrogenase E1-alpha deficiency (PDHAD, Leigh syndrome, X-linked) (PDHAD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000060465 Pyruvate dehydrogenase E1-alpha deficiency (OMIM:312170) - - Isolated (sporadic) - - - - - Daniel Trujillano



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081008 DNA SEQ;SEQ-NG - - PDHA1 1 Daniel Trujillano



Variants

1 entry on 1 page. Showing entry 1.
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     

Codon change     

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/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
X Unknown +/. ACMG pathogenic g.19377740_19377743dup g.19359622_19359625dup - - PDHA1_000011 - PubMed: Trujillano 2017 - - De novo - - - 0 - Daniel Trujillano PDHA1 - - - - - - NM_000284.3:c.1142_1145dup - r.(?) p.(Trp383Serfs*6) - - - - - - - - - - - - - - - - - - -
Legend   How to query