Gene entry
OPTN
optineurin
- Chromosome
- 10
- Cytoband
- 10p13
- Variants (rsID)
- 18
OPTN is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10p13). Its official name is “optineurin”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs11258194Benignsingle nucleotide variantGlaucoma, normal tension, susceptibility to|Glaucoma 1, open angle, E|Primary open angle glaucoma|Amyotrophic lateral sclerosis type 12|Amyotrophic lateral sclerosis type 12|Glaucoma 1, open angle, E|Primary open angle glaucoma
- rs2244380Benignsingle nucleotide variantPrimary open angle glaucoma|Amyotrophic lateral sclerosis type 12|Primary open angle glaucoma|Amyotrophic lateral sclerosis type 12|Glaucoma 1, open angle, E
- rs75654767Conflicting interpretationssingle nucleotide variantGlaucoma 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
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.