Individual #00207423

ID_report 25293719-73387
Reference PubMed: Oláhová 2015
Remarks 2 generation family, consanguineous parents, 1 affected child
Gender F
Consanguinity yes
Country United Kingdom (Great Britain)
Population Pakistani
Age/Death 00y00m02d (2 days)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases deficiency, mitochondrial complex IV (cytochrome C oxidase)
Owner name Sze Chern Lim


Phenotypes

deficiency, mitochondrial complex IV (cytochrome C oxidase) (-)   Add phenotype for this disease

AscendingPhenotype ID     

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Owner     
0000155202 Severe lactic acidosis(HP:0003128), Cranial ultrasound showed bilateral intraventricular cysts within the frontal horns and anterior portions of the lateral ventricles. Severely impaired liver function. - - Familial, autosomal recessive - - - - - Sze Chern Lim



Screenings


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Owner     
0000208460 DNA SEQ-NG-I - - - 1 Sze Chern Lim



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Protein level     
19 Unknown +/+ g.7696362C>T - - - PET100_000002 - PubMed: Oláhová 2015 ClinVar-128250 rs587779779 Germline yes - - 0 - Sze Chern Lim PET100 - - - - - 4 NM_001171155.1:c.142C>T - - r.(?) p.Gln48* - - - - - - - - - - - - - - - - - - -
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