| Gene | NIPA1 |
| Gene name | NIPA magnesium transporter 1 |
| Number variants ALSoD | 7 |
| Number people with mutation ALSoD | No patient data available in ALSoD |
| Number of papers ALSoD | 1 |
| Chromosomal location | 15q11.2 |
| Protein | Magnesium transporter NIPA1 |
| Discovery method | Genomewide-association study |
| Hg19 start-end | 23043297-23100005 |
| Hg38 start-end | 22773063-22829789 |
| Category | Strong evidence |
| Evidence summary | To be drafted |
| Review references | To be added |
| Mnemonic | Chromosome | Position hg19 | HGVS | Pubmed links | # publications | # patients |
|---|---|---|---|---|---|---|
| A86G | 15 | 23060875 | NM_144599.5:c.257C>G | 22378146 | 1 | 0 |
| I120M | 15 | 23052713 | NM_144599.5:c.360C>G | 22378146 | 1 | 0 |
| I81T | 15 | 23060890 | NM_144599.5:c.242T>C | 22378146 | 1 | 0 |
| M189I | 22378146 | 1 | 0 | |||
| P221L | 15 | 23049157 | NM_144599.5:c.662C>T | 22378146 | 1 | 0 |
| R281Q | 15 | 23048977 | NM_144599.5:c.842G>A | 22378146 | 1 | 0 |
| V162M | 15 | 23049335 | NM_144599.5:c.484G>A | 22378146 | 1 | 0 |
| Pubmed ID | First author | Year | Title | |
|---|---|---|---|---|
| 22378146 | Blauw | 2012 | NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis |