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Variant (rsID / SNP)

rs141772938

ACO2

rs141772938 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACO2. Location: chromosome 22, position 41,903,841. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ACO2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:41903841
Cytoband
22q13.2
HGVS
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
Allele change
Missense_L74V

Associated conditions / phenotypes

Optic atrophy 9|Infantile cerebellar-retinal degeneration|Optic atrophy 9|Infantile cerebellar-retinal degeneration|OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE

Public references

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