Variant: rs527236058 

    present in Gene: NIPAL1;LOC101927157;CNGA1
    present in Chromosome: 4
    Position on Chromosome: 47951398
    Alleles of this Variant: C/-

rs527236058 in NIPAL1;LOC101927157;CNGA1 gene and RETINITIS PIGMENTOSA 49 PMID 7479749 1995 Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

PMID 25268133 2014 Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.