Gene entry
NMNAT1
nicotinamide nucleotide adenylyltransferase 1
- Chromosome
- 1
- Cytoband
- 1p36.22
- Variants (rsID)
- 6
NMNAT1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.22). Its official name is “nicotinamide nucleotide adenylyltransferase 1”. The reference table lists 6 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs138613460Conflicting interpretationssingle nucleotide variantRetinal dystrophy|Leber congenital amaurosis 9
- rs150726175Pathogenicsingle nucleotide variantLeber congenital amaurosis 9|Leber congenital amaurosis|7 conditions|Retinal dystrophy
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.