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Variant (rsID / SNP)

rs141878785

ACO2

rs141878785 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACO2. Location: chromosome 22, position 41,911,805. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ACO2Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
22:41911805
Cytoband
22q13.2
HGVS
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala)
Allele change
Missense_G240A

Associated conditions / phenotypes

Infantile cerebellar-retinal degeneration|Optic atrophy 9|Retinal dystrophy|Optic atrophy 9|Infantile cerebellar-retinal degeneration

Public references

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