present in Gene: RP1L1
present in Chromosome: 8
Position on Chromosome: 10623069
Alleles of this Variant: G/A
rs267607017 in
RP1L1 gene and
OCCULT MACULAR DYSTROPHY
PMID 22605915 2012 A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms.
PMID 20826268 2010 However, amino acid substitution of p.Arg45Trp in retinitis pigmentosa 1-like 1 (RP1L1) was found in three OMD families and p.Trp960Arg in a remaining OMD family.