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Variant (rsID / SNP)

rs146175179

COX10

rs146175179 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COX10. Location: chromosome 17, position 14,110,179. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COX10Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:14110179
Cytoband
17p12
HGVS
NM_001303.4(COX10):c.981C>T (p.Asn327=)
Allele change
Synonymous_N327N

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.