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Variant (rsID / SNP)

rs121908375

OPA1

rs121908375 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPA1. Location: chromosome 3, position 193,355,069. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

OPA1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:193355069
Cytoband
3q29
HGVS
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)
Allele change
Missense_R309Q

Associated conditions / phenotypes

Autosomal dominant optic atrophy classic form|Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

Public references

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