Variant: rs104894471 

    present in Gene: RDH12;GPHN
    present in Chromosome: 14
    Position on Chromosome: 67724588
    Alleles of this Variant: C/T

rs104894471 in RDH12;GPHN gene and LEBER CONGENITAL AMAUROSIS 13 PMID 26497376 2015 Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.

PMID 15322982 2004 Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

PMID 29186038 2017 Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.

PMID 15258582 2004 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.