Individual #00063251

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country Spain
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases COXPD-3
Owner name NeuroMeGen


Phenotypes

combined oxidative phosphorylation deficiency, type 3 (COXPD-3) (COXPD-3)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000050848 - - - Unknown - - - - - NeuroMeGen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000063240 DNA SEQ-NG Blood - TSFM 1 NeuroMeGen
0000072359 DNA SEQ-NG Blood - NDUFS1 1 NeuroMeGen



Variants

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

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     

Legacy protein change     

Protein level     
2 Unknown +?/. - likely pathogenic g.207012512G>A g.206147788G>A - - NDUFS1_000001 - - - - Unknown - - - 0 - NeuroMeGen NDUFS1 - - - - - 6 NM_005006.6:c.385C>T - r.(?) p.(Pro129Ser) - - - - - - - - - - - - - - - - - - - -
12 Both (homozygous) +?/. - likely pathogenic g.58190107G>C g.57796324G>C - - TSFM_000003 - - - - Germline ? - - 0 - NeuroMeGen TSFM - - - - - 7 NM_001172696.1:c.782G>C - r.(?) p.(Cys261Ser) - - - - - - - - - - - - - - - - - - - -
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