NMNAT1 Chromosome 1
Nicotinamide nucleotide adenylyltransferase 1
Upload your DNA to see your personal genotypes for variants in NMNAT1.
What This Gene Does
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]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
1p36.22
Ensembl
ENSG00000173614
Associated Conditions (15)
Leber congenital amaurosis 9
Retinal dystrophy
NMNAT1-related disorder
Spondyloepiphyseal dysplasia
sensorineural hearing loss
impaired intellectual development
and leber congenital amaurosis
Inborn genetic diseases
Leber congenital amaurosis
Cone-rod dystrophy
Retinal disorder
Cone dystrophy
7 conditions
autosomal recessive NMNAT1-related disorders.
Autosomal recessive NMNAT1-related disorders
Key Variants
RS1337014971
Conflicting classifications of pathogenicity
Leber congenital amaurosis 9, Leber congenital amaurosis 9
Health Risk
RS138613460
Conflicting classifications of pathogenicity
Retinal dystrophy, Leber congenital amaurosis 9, NMNAT1-related disorder
Health Risk
RS147220828
Conflicting classifications of pathogenicity
Leber congenital amaurosis 9, Spondyloepiphyseal dysplasia, sensorineural hearing loss
Health Risk
RS201994921
Conflicting classifications of pathogenicity
Leber congenital amaurosis 9, Spondyloepiphyseal dysplasia, sensorineural hearing loss
Health Risk
RS202057799
Conflicting classifications of pathogenicity
Leber congenital amaurosis 9, Inborn genetic diseases, NMNAT1-related disorder
Health Risk
RS368062092
Conflicting classifications of pathogenicity
Leber congenital amaurosis 9, Leber congenital amaurosis 9, Leber congenital amaurosis 9
Health Risk
RS61740429
Conflicting classifications of pathogenicity
Leber congenital amaurosis 9, Inborn genetic diseases, Leber congenital amaurosis 9
Health Risk
RS756903689
Conflicting classifications of pathogenicity
Leber congenital amaurosis 9, Leber congenital amaurosis 9
Health Risk
RS768528387
Conflicting classifications of pathogenicity
Leber congenital amaurosis, Leber congenital amaurosis 9, Cone-rod dystrophy
Health Risk
RS1244511644
Likely pathogenic
Health Risk
RS1475372376
Likely pathogenic
Leber congenital amaurosis 9, Leber congenital amaurosis 9
Health Risk
RS1553128102
Likely pathogenic
Leber congenital amaurosis, Leber congenital amaurosis
Health Risk
All Variants (66)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1337014971 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS138613460 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Leber congenital amaurosis 9, NMNAT1-related disorder |
| RS147220828 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 9, Spondyloepiphyseal dysplasia, sensorineural hearing loss |
| RS201994921 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 9, Spondyloepiphyseal dysplasia, sensorineural hearing loss |
| RS202057799 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 9, Inborn genetic diseases, NMNAT1-related disorder |
| RS368062092 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 9, Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS61740429 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 9, Inborn genetic diseases, Leber congenital amaurosis 9 |
| RS756903689 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS768528387 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis, Leber congenital amaurosis 9, Cone-rod dystrophy |
| RS1244511644 | Health Risk | Likely pathogenic | — |
| RS1475372376 | Health Risk | Likely pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1553128102 | Health Risk | Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS1570715470 | Health Risk | Likely pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1640875002 | Health Risk | Likely pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1640875786 | Health Risk | Likely pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1641702737 | Health Risk | Likely pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1641704371 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1641789657 | Health Risk | Likely pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1641791811 | Health Risk | Likely pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1641792104 | Health Risk | Likely pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1641966303 | Health Risk | Likely pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1641967500 | Health Risk | Likely pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1641971124 | Health Risk | Likely pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1641973290 | Health Risk | Likely pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS747653875 | Health Risk | Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS757724544 | Health Risk | Likely pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS771954272 | Health Risk | Likely pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS775978677 | Health Risk | Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS779434083 | Health Risk | Likely pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS957312118 | Health Risk | Likely pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS986437232 | Health Risk | Likely pathogenic | Leber congenital amaurosis 9, Spondyloepiphyseal dysplasia, sensorineural hearing loss |
| RS1017147686 | Health Risk | Pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1025005830 | Health Risk | Pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1175912276 | Health Risk | Pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1204470176 | Health Risk | Pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1345605596 | Health Risk | Pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1413885352 | Health Risk | Pathogenic | Leber congenital amaurosis 9, Retinal disorder, Leber congenital amaurosis 9 |
| RS142968179 | Health Risk | Pathogenic | Leber congenital amaurosis 9, Retinal dystrophy, Leber congenital amaurosis 9 |
| RS1641936336 | Health Risk | Pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1641937559 | Health Risk | Pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1641939338 | Health Risk | Pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1641939445 | Health Risk | Pathogenic | Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development |
| RS1641966566 | Health Risk | Pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS1641970512 | Health Risk | Pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS2101701634 | Health Risk | Pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS2101713372 | Health Risk | Pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS2522248595 | Health Risk | Pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS2522304453 | Health Risk | Pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9 |
| RS371526758 | Health Risk | Pathogenic | Leber congenital amaurosis 9, Inborn genetic diseases, NMNAT1-related disorder |
| RS372066126 | Health Risk | Pathogenic | Leber congenital amaurosis 9, Leber congenital amaurosis 9, Leber congenital amaurosis 9 |