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Variant (rsID / SNP)

rs114521946

COX10

rs114521946 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COX10. Location: chromosome 17, position 14,063,251. 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
17:14063251
Cytoband
17p12
HGVS
NM_001303.4(COX10):c.682C>T (p.Arg228Cys)
Allele change
Missense_R228C

Associated conditions / phenotypes

Leigh syndrome|Cytochrome-c oxidase deficiency disease

Public references

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