Individual #00004538

ID_report -
Reference -
Remarks -
Gender F
Consanguinity no
Country United Kingdom (Great Britain)
Population Caucasian
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases LS
Owner name Robert McFarland


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     
0000003235 - Familial, autosomal recessive - - - - - - - Robert McFarland



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004452 DNA DSCA Blood - NDUFS2 2 Robert McFarland



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     
1 Unknown g.161179002G>A g.161209212G>A - - NDUFS2_000003 - - - - Germline - - - 0 - Robert McFarland NDUFS2 +?/? - - - - - 5 NM_004550.4:c.413G>A - - r.(?) p.(Arg138Gln) - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.161182152G>A g.161212362G>A - - NDUFS2_000004 - - - - Germline - - - 0 - Robert McFarland NDUFS2 +?/? - - - - - 11 NM_004550.4:c.998G>A - - r.(?) p.(Arg333Gln) - - - - - - - - - - - - - - - - - - - - - - -
Legend