Glaucoma, primary open angle
OMIM:137760Mode of inheritance:Autosomal dominant
Disease classification:Diseases of the eye and adnexa
Polymorphisms
| Gene symbol | OPTN | |||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Reference transcript | NM_001008211.1 | |||||||||||||||
| DNA Change | c.293T>A | |||||||||||||||
| A.A. Change | p.Met98Lys | |||||||||||||||
| Exon/Intron | exon 5 | |||||||||||||||
| Variation Type | substitution | |||||||||||||||
| Reference SNP | rs11258194 | |||||||||||||||
| Cases | 56 POAG | |||||||||||||||
| Controls | 60 Controls | |||||||||||||||
| Frequency |
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| Comments | The frequency of the variant was similar in patients and in matched controls group | |||||||||||||||
| Reference | Melki R, Belmouden A, Akhayat O, Brezin A, Garchon HJ.The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma. J Med Genet. 2003 Nov;40(11):842-4. |