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Variant (rsID / SNP)

rs61753148

SCO1

rs61753148 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCO1. Location: chromosome 17, position 10,600,809. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SCO1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:10600809
Cytoband
17p13.1
HGVS
NM_004589.4(SCO1):c.16C>G (p.Leu6Val)
Allele change
Missense_L6V

Associated conditions / phenotypes

Cytochrome-c oxidase deficiency disease|Leigh syndrome

Public references

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