Individual #00174853

ID_report ?
Reference Simon, unpublished
Remarks -
Gender -
Consanguinity -
Country United States
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases LS
Owner name Mariella Simon


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     
0000139677 Leigh syndrome Unknown - - - - - ? - Mariella Simon



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000175744 DNA SEQ - - NDUFAF5 2 Mariella Simon



Variants

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

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
20 Maternal (confirmed) g.13765869A>C - - - NDUFAF5_000005 compound heterozygous with c.836T>G Simon, unpublished - - Germline yes - - 0 - Mariella Simon NDUFAF5 +/. - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Paternal (confirmed) g.13797166T>G - - - NDUFAF5_000006 compound heterozygous with c.155A>C - ClinVar-225036 rs761389904 Germline yes - - 0 - Mariella Simon NDUFAF5 +/. - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend