RAB28

Gene name: RAB28, member RAS oncogene family
OMIM ID: 612994
Chromosome location: 4p15.33

Mutations

Disease/Phenotype	Cone-rod dystrophy 18
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.

---