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Variant (rsID / SNP)

rs35630194

OPA1

rs35630194 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPA1. Location: chromosome 3, position 193,332,733. 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
3:193332733
Cytoband
3q29
HGVS
NM_130837.3(OPA1):c.254G>A (p.Arg85His)
Allele change
Missense_R85H

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.