Cone-rod dystrophy 18
OMIM:615374Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the eye and adnexa
Mutations
| Gene Symbol | RAB28 |
|---|---|
| Reference transcript | NM_001017979.2 |
| DNA Change | c.409C>T |
| A.A. Change | p.Arg137* |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | Roosing S, Rohrschneider K, Beryozkin A, Sharon D, Weisschuh N, Staller J, Kohl S, Zelinger L, Peters TA, Neveling K, Strom TM; European Retinal Disease Consortium, van den Born LI, Hoyng CB, Klaver CC, Roepman R, Wissinger B, Banin E, Cremers FP, den Hollander AI.Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am J Hum Genet. 2013 Jul 11;93(1):110-7. |