rs387907292
This is a variant in the NMNAT1 gene that changes a valine to an phenylalanine.
▶ClinVar annotation
Leber congenital amaurosis 9 (LCA9)
View on ClinVar →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]
View all NMNAT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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