Variant (rsID / SNP)

rs777532861

rs777532861 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COX15. Location: chromosome 10, position 101,489,418. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COX15Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:101489418
Cytoband: 10q24.2
HGVS: NM_078470.6(COX15):c.164G>A (p.Arg55Lys)
Allele change: Missense_R55K

Associated conditions / phenotypes

Leigh syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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