Variant (rsID / SNP)

rs2159132

rs2159132 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COX10. Location: chromosome 17, position 14,005,439. Clinical significance in the table: Benign.

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Reference-table entries

COX10Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:14005439
Cytoband: 17p12
HGVS: NM_001303.4(COX10):c.504G>A (p.Leu168=)
Allele change: Synonymous_L168L

Associated conditions / phenotypes

Leigh syndrome|Cytochrome-c oxidase deficiency disease

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.