KCNV2
Gene name: potassium channel, subfamily V, member 2OMIM ID: 607604
Chromosome location: 9p24.2
Mutations
| Disease/Phenotype | Retinal cone dystrophy 3B |
|---|---|
| Reference transcript | NM_133497.3 |
| DNA Change | c.1404delC |
| A.A. Change | p.His468fsX503 |
| Exon/Intron | exon 2 |
| Mutation Type | deletion |
| Reference | Ben Salah S, Kamei S, Senechal A, Lopez S, Bazalgette C, Bazalgette C, Eliaou CM, Zanlonghi X, Hamel CP.Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram. Am J Ophthalmol. 2008 Jun;145(6):1099-106. |