NMNAT1

nicotinamide nucleotide adenylyltransferase 1

Summary

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]

Known Variants175 total

rsidPosition (GRCh37)AllelesClassClinVar
rs12204241:10,001,980T/C——
rs14753723761:10,003,558G/A—likely pathogenic
rs9987393701:10,003,559G/C—uncertain significance
rs11759122761:10,003,561C/T—pathogenic
rs16408750021:10,003,573G/T—likely pathogenic
rs13543236161:10,003,575T/C—uncertain significance
rs9573121181:10,003,577A/G—likely pathogenic
rs16408757861:10,003,583C/T—likely pathogenic
rs796413901:10,003,710G/Cregulatory region variant—
rs7566493891:10,032,132A/G—pathogenic
rs1484908171:10,032,143C/T—likely benign
rs7478256991:10,032,144G/A—uncertain significance
rs1995611651:10,032,149G/T—uncertain significance
rs16417020081:10,032,153G/A—uncertain significance
rs617404291:10,032,154A/C—conflicting classifications of pathogenicity
rs3879072941:10,032,156G/Amissense variantpathogenic
rs1386134601:10,032,168G/A—conflicting classifications of pathogenicity
rs16417027371:10,032,169C/A—likely pathogenic
rs7593640141:10,032,182C/A—uncertain significance
rs7489027661:10,032,184A/Gmissense variantpathogenic
rs7752134981:10,032,188C/T—likely benign
rs7619487621:10,032,190T/A—uncertain significance
rs7677796161:10,032,197C/T—likely benign
rs9290015581:10,032,206C/A—likely benign
rs1997484361:10,032,209G/A—likely benign
rs21016931741:10,032,219C/T—likely benign
rs25222092391:10,032,222G/T—uncertain significance
rs21016931911:10,032,225A/G—uncertain significance
rs16417043711:10,032,235T/C—likely pathogenic
rs14083988281:10,032,237A/G—uncertain significance
rs7544288671:10,032,239T/C—likely benign
rs8659929411:10,032,240G/A—uncertain significance
rs7794340831:10,032,247G/A—likely pathogenic
rs1815042391:10,032,249A/G—likely benign
rs7774669891:10,032,254C/G—likely benign
rs7806384261:10,032,260C/T—likely benign
rs7458242701:10,032,261C/T—likely benign
rs12734614151:10,032,262A/G—likely benign
rs7501154671:10,035,639T/C—likely benign
rs12044701761:10,035,648A/G—pathogenic
rs25222461201:10,035,654G/T—uncertain significance
rs21017013101:10,035,660A/G—likely benign
rs25222462481:10,035,662T/A—uncertain significance
rs11956407841:10,035,688G/C—uncertain significance
rs7685283871:10,035,689G/T—conflicting classifications of pathogenicity
rs16417892491:10,035,697T/A—uncertain significance
rs10171476861:10,035,699C/G—pathogenic
rs7769175621:10,035,701A/G—uncertain significance
rs16417896571:10,035,713T/G—likely pathogenic
rs7658924591:10,035,718C/A—uncertain significance
rs11749828891:10,035,725A/G—uncertain significance
rs14165902691:10,035,727C/T—uncertain significance
rs7633254351:10,035,730C/T—pathogenic
rs7569036891:10,035,733G/T—conflicting classifications of pathogenicity
rs3720661261:10,035,739A/G—pathogenic
rs12382554941:10,035,740T/A—uncertain significance
rs2010209181:10,035,747A/C—uncertain significance
rs21017015621:10,035,750T/C—likely benign
rs16417918111:10,035,772G/A—likely pathogenic
rs16417921041:10,035,778G/T—likely pathogenic
rs9864372321:10,035,779T/C—likely pathogenic
rs7555932501:10,035,787T/C—uncertain significance
rs25222485951:10,035,788G/A—pathogenic
rs21017016341:10,035,789G/A—pathogenic
rs12714987101:10,035,805G/A—pathogenic
rs16417929291:10,035,809G/A—no classification for the single variant
rs7713362461:10,035,827T/G—pathogenic
rs7769689501:10,035,833G/A—uncertain significance
rs13912270091:10,035,845G/T—likely benign
rs7459834311:10,035,846T/G—likely benign
rs9197638571:10,035,852A/G—likely benign
rs5317790281:10,039,716C/G——
rs7550108461:10,041,077G/C—likely benign
rs7787019651:10,041,079T/G—likely benign
rs21017131621:10,041,084T/C—likely benign
rs7480037151:10,041,085A/G—likely benign
rs14028794041:10,041,105T/C—likely benign
rs16419363361:10,041,108G/T—pathogenic
rs13051516711:10,041,155G/A—likely benign
rs7748130241:10,041,159G/A—uncertain significance
rs7622712071:10,041,161A/G—likely benign
rs16419375591:10,041,165A/T—pathogenic
rs25222911071:10,041,172A/G—uncertain significance
rs5478594151:10,041,176G/T—uncertain significance
rs10338008291:10,041,180G/A—uncertain significance
rs3773255721:10,041,186C/A—uncertain significance
rs2003330031:10,041,199A/T—uncertain significance
rs1881120511:10,041,224A/G—likely benign
rs15707154701:10,041,228G/C—likely pathogenic
rs16419393381:10,041,229G/C—pathogenic
rs16419394451:10,041,233G/T—pathogenic
rs9924044141:10,041,235A/G—likely benign
rs3758871271:10,041,240T/C—likely benign
rs14172082681:10,041,329A/G—likely benign
rs1815130241:10,042,343G/T—benign
rs1409874021:10,042,366A/C—likely benign
rs3879072921:10,042,370G/Tmissense variantuncertain significance
rs7477913001:10,042,372C/G—likely benign
rs7625357141:10,042,374A/G—uncertain significance
rs3879072931:10,042,376C/Gmissense variantpathogenic

Showing 100 of 175 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.