Variant (rsID / SNP)

rs80356529

rs80356529 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPA1. Location: chromosome 3, position 193,361,785. Clinical significance in the table: Pathogenic.

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Reference-table entries

OPA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:193361785
Cytoband: 3q29
HGVS: NM_130837.3(OPA1):c.1499G>A (p.Arg500His)
Allele change: Missense_R464H

Associated conditions / phenotypes

Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy|Mitochondrial disease

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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