Variant: rs121909398 

    present in Gene: CERKL
    present in Chromosome: 2
    Position on Chromosome: 181558617
    Alleles of this Variant: G/A;C

rs121909398 in CERKL gene and Cone-Rod Dystrophies PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs121909398 in CERKL gene and Retinal Dystrophies PMID 14681825 2004 Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

rs121909398 in CERKL gene and Retinitis Pigmentosa PMID 21151602 2010 Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

PMID 24043777 2013 Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 25999674 2015 The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

PMID 14681825 2004 Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

PMID 22164218 2011 Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.