| Variant ID | 5285 |
|---|---|
| Entrez Gene ID | 349565 |
| Gene | NMNAT3 (GeneCards) |
| Location | hg19 3:139495393-139495393
hg38 3:139776551-139776551 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.139495393 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0095 |
| CADD Raw score (version 1.3) | 0.129413 (Deleterious) |
| FATHMM raw prediction score | 0.16185 (Tolerated) |
| Deleterious probability by DeFine | 0.5864 (Deleterious) |
| Entrez Gene ID | 349565 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NMNAT3 (GeneCards) |
| Number of variants in NMNAT3 in this database | 2 (view all the variants) |
| Full name | nicotinamide nucleotide adenylyltransferase 3 |
| Band | 3q23 |
| Other IDs | Vega: OTTHUMG00000159951 OMIM: 608702 HGNC: HGNC:20989 Ensembl: ENSG00000163864 |
| Other names | PNAT3, FKSG76, PNAT-3 |
| Summary | This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucleotide or nicotinic acid mononucleotide, respectively. The encoded protein is localized to mitochondria and may also play a neuroprotective role as a molecular chaperone. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] |
| Individual ID | 29217584.11 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |