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Variant (rsID / SNP)

rs375761361

ACO2

rs375761361 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACO2. Location: chromosome 22, position 41,923,953. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ACO2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
22:41923953
Cytoband
22q13.2
HGVS
NM_001098.3(ACO2):c.2135C>T (p.Pro712Leu)
Allele change
Missense_P712L

Associated conditions / phenotypes

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.