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Variant (rsID / SNP)

rs201520438

OPA1

rs201520438 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPA1. Location: chromosome 3, position 193,332,549. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

OPA1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:193332549
Cytoband
3q29
HGVS
NM_130837.3(OPA1):c.70A>G (p.Ile24Val)
Allele change
Missense_I24V

Associated conditions / phenotypes

Autosomal dominant optic atrophy classic form

Public references

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