Variant: rs121918244

present in Gene: IQCB1 present in Chromosome: 3 Position on Chromosome: 121781772 Alleles of this Variant: G/A

rs121918244 in IQCB1 gene and Retinal Dystrophies PMID 15723066 2005 Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.