Variant (rsID / SNP)
rs75654767
rs75654767 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPTN. Location: chromosome 10, position 13,178,766. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
OPTNConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:13178766
- Cytoband
- 10p13
- HGVS
- NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)
- Allele change
- Missense_R545Q
Associated conditions / phenotypes
Glaucoma 1, open angle, E|Amyotrophic lateral sclerosis type 12|Primary open angle glaucoma|Amyotrophic lateral sclerosis type 12|Primary open angle glaucoma|Glaucoma 1, open angle, E
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.