Variant (rsID / SNP)

rs74315511

rs74315511 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NCAPH2, SCO2, TYMP. Location: chromosome 22, position 50,962,423. Clinical significance in the table: Pathogenic.

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Reference-table entries

NCAPH2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:50962423
Cytoband: 22q13.33
HGVS: NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)
Allele change: Silent

Associated conditions / phenotypes

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1|Myopia 6|Severe global developmental delay|Seizure|Toe walking

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.