Variant (rsID / SNP)
rs11258194
rs11258194 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPTN. Location: chromosome 10, position 13,152,400. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
OPTNBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:13152400
- Cytoband
- 10p13
- HGVS
- NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)
- Allele change
- Missense_M98K
Associated conditions / phenotypes
Glaucoma, 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.