present in Gene: CLN3
present in Chromosome: 16
Position on Chromosome: 28477620
Alleles of this Variant: G/A;C;T
rs139842473 in
CLN3 gene and
Retinitis Pigmentosa
PMID 24154662 2014 Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.