Variant: rs866395428 

    present in Gene: LCA5
    present in Chromosome: 6
    Position on Chromosome: 79493633
    Alleles of this Variant: G/A

rs866395428 in LCA5 gene and Leber Congenital Amaurosis PMID 25412400 2015 Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

rs866395428 in LCA5 gene and Multiple congenital anomalies PMID 17546029 2007 Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

PMID 18000884 2007 Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

PMID 10631161 2000 A novel locus for Leber congenital amaurosis maps to chromosome 6q.

PMID 12642313 2003 Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.

rs866395428 in LCA5 gene and Retinal Dystrophies PMID 25412400 2015 Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.