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Variant (rsID / SNP)

rs112793292

TYMPNCAPH2SCO2

rs112793292 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYMP, NCAPH2, SCO2. Location: chromosome 22, position 50,962,078. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TYMPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:50962078
Cytoband
22q13.33
HGVS
NM_005138.3(SCO2):c.763C>A (p.Arg255=)
Allele change
Silent

Associated conditions / phenotypes

Cytochrome-c oxidase deficiency disease|Fatal Infantile Cardioencephalomyopathy|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

Public references

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