rs104893613

This is a variant in the CNGA3 gene that changes a arginine to an tryptophan.

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ClinVar annotation

Pathogenic★★★☆
13 submitters25 publications

Achromatopsia 2 (ACHM2); Monochromacy; Retinal dystrophy

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Research that mentions this SNP (1)

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Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases
Case reportN=7Koji M. Nishiguchi et al.(2005)· Human Mutation

First molecular and clinical characterization of achromatopsia (ACHM) in Thai patients. Seven unrelated patients with ACHM were screened for pathogenic variants in CNGA3, CNGB3, and GNAT2 genes. Three novel disease-associated variants were identified (rs104893613, rs750456621, rs770786127 in CNGB3 and CNGA3), along with additional pathogenic variants. Segregation analysis confirmed autosomal recessive inheritance patterns consistent with ACHM pathology.

Traits studied:AchromatopsiaColor blindnessComplete achromatopsiaCone photoreceptor dysfunctionIncomplete achromatopsiaOligocone trichromacy
PubMedDOIMetascience Observatory

About CNGA3

This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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