Variant (rsID / SNP)

rs147487151

rs147487151 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCO1. Location: chromosome 17, position 10,600,820. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SCO1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:10600820
Cytoband: 17p13.1
HGVS: NM_004589.4(SCO1):c.5C>A (p.Ala2Glu)
Allele change: Missense_A2E

Associated conditions / phenotypes

Infantile encephalopathy|Cytochrome-c oxidase deficiency disease|Cytochrome-c oxidase deficiency disease|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.