Individual #00073099

ID_report -
Reference -
Remarks This patient is the same as described by {PMID16361598:Horvath et al. (2006)}
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases LS
Owner name Herma Renkema


Phenotypes

syndrome, Leigh (LS) (LS)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000052791 - Unknown - - - - - - - Herma Renkema



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073256 DNA;RNA DSCA;RT-PCR;SEQ - - SDHA 2 Herma Renkema



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Chr     

Allele     

Effect     

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     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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     

Protein level     
5 Maternal (confirmed) +/? g.224572C>T g.224457C>T A83V - SDHA_000006 - - - - Unknown - - - 0 - Herma Renkema SDHA - - - - - 3 NM_004168.2:c.248C>T - - r.247_312del p.(Ala83Val) - - - - - - - - - - - - - - - - - - -
5 Paternal (confirmed) +/? g.225577G>A g.225462G>A W119X - SDHA_000007 - - - - Unknown - - - 0 - Herma Renkema SDHA - - - - - 4 NM_004168.2:c.356G>A - - r.(?) p.(Trp119*) - - - - - - - - - 0.16 - - - - - - - - -
Legend