Variant (rsID / SNP)
rs104893753
rs104893753 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPA1. Location: chromosome 3, position 193,360,794. Clinical significance in the table: Pathogenic.
Reference-table entries
OPA1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:193360794
- Cytoband
- 3q29
- HGVS
- NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter)
- Allele change
- Nonsense_R385X
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.