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Variant (rsID / SNP)

rs770533125

SCO2TYMP

rs770533125 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCO2, TYMP. Location: chromosome 22, position 50,964,554. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SCO2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:50964554
Cytoband
22q13.33
HGVS
NM_001953.5(TYMP):c.1176C>T (p.Val392_Arg393=)
Allele change
Silent

Associated conditions / phenotypes

Cytochrome-c oxidase deficiency disease|Fatal Infantile Cardioencephalomyopathy|Mitochondrial DNA depletion syndrome 1|Mitochondrial neurogastrointestinal encephalomyopathy

Public references

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