rs150726175

This is a variant in the NMNAT1 gene that changes a glutamate to an lysine.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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ClinVar annotation

Pathogenic★★★☆
21 submitters42 publications

Cone-rod dystrophy; Developmental regression; Diarrhea; Gastrointestinal dysmotility; Global developmental delay (DD); Inborn genetic diseases; Leber congenital amaurosis (LCA); Leber congenital amaurosis 9 (LCA9); NMNAT1-related disorder; Nystagmus; Retinal dystrophy; Severely reduced visual acuity; Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

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About NMNAT1

This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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