Individual #00004537

ID_report -
Reference -
Remarks -
Gender F
Consanguinity no
Country United Kingdom (Great Britain)
Population Caucasian (white)
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     
0000003234 - Familial, autosomal recessive - - - - - failure to thrive, dysphagia, recurrent vomiting, apnoea, developmental regression - Robert McFarland



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004451 DNA DSCA Blood - NDUFS2 2 Robert McFarland



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
1 Unknown +?/? g.161176347G>A g.161206557G>A - - NDUFS2_000001 - - - - Germline ? - - 0 - Robert McFarland NDUFS2 - - - - - 4 NM_004550.4:c.353G>A - - r.(?) p.(Arg118Gln) - - - - - - - - - - - - - - - - - - -
1 Unknown +?/? g.161180389T>C g.161210599T>C - - NDUFS2_000002 - - - - Germline - - - 0 - Robert McFarland NDUFS2 - - - - - 10 NM_004550.4:c.875T>C - - r.(?) p.(Met292Thr) - - - - - - - - - - - - - - - - - - -
Legend