RAB28, RAB28, member RAS oncogene family, 9364

N. diseases: 16; N. variants: 5
Disease: Cone-Rod Dystrophy 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123044
rs398123044
Entrez Id: 9364
Gene Symbol: RAB28
RAB28
CUI: C3489532
Disease:
Cone-Rod Dystrophy 2 		0.010 GeneticVariation BEFREE Another homozygous nonsense mutation (c.409C>T [p.Arg137*]) was identified in a family of Moroccan Jewish descent with two siblings affected by arCRD. 23746546 2013