Variant: rs386834261 

    present in Gene: RDH12;GPHN;ZFYVE26
    present in Chromosome: 14
    Position on Chromosome: 67729337
    Alleles of this Variant: CCCTG/-

rs386834261 in RDH12;GPHN;ZFYVE26 gene and Abnormality of the eye PMID 15258582 2004 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

rs386834261 in RDH12;GPHN;ZFYVE26 gene and LEBER CONGENITAL AMAUROSIS 13 PMID 22065924 2011 RDH12 retinopathy: novel mutations and phenotypic description.

PMID 26047050 2015 Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

PMID 16269441 2005 Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

PMID 17389517 2007 The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

PMID 23847139 2013 Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

rs386834261 in RDH12;GPHN;ZFYVE26 gene and Retinal Dystrophies PMID 15258582 2004 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.