Variant: rs62625014

present in Gene: CNGA1;NIPAL1;LOC101927157 present in Chromosome: 4 Position on Chromosome: 47937535 Alleles of this Variant: G/A;C

rs62625014 in CNGA1;NIPAL1;LOC101927157 gene and Cone-Rod Dystrophies PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs62625014 in CNGA1;NIPAL1;LOC101927157 gene and Macular dystrophy PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs62625014 in CNGA1;NIPAL1;LOC101927157 gene and RETINITIS PIGMENTOSA 49 PMID 15570217 2004 Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.

PMID 7479749 1995 Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

rs62625014 in CNGA1;NIPAL1;LOC101927157 gene and Retinitis Pigmentosa PMID 7479749 1995 Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

PMID 28981474 2017 The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.