Variant (rsID / SNP)
rs143319805
rs143319805 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPA1. Location: chromosome 3, position 193,361,167. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
OPA1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:193361167
- Cytoband
- 3q29
- HGVS
- NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
- Allele change
- Missense_I401M
Associated conditions / phenotypes
Autosomal dominant optic atrophy classic form|Abortive cerebellar ataxia|Optic nerve hypoplasia|Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy|Autosomal dominant optic atrophy classic form|Abortive cerebellar ataxia|Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.