| Gene | SIGMAR1 |
| Gene name | sigma non-opioid intracellular receptor 1 |
| Number variants ALSoD | 2 |
| Number people with mutation ALSoD | 1 |
| Number of papers ALSoD | 2 |
| Chromosomal location | 9p13.3 |
| Protein | Sigma non-opioid intracellular receptor 1 |
| Discovery method | Candidate gene |
| Hg19 start-end | 34634719-34637806 |
| Hg38 start-end | 34634722-34637809 |
| Category | Tenuous |
| Evidence summary | To be drafted |
| Review references | To be added |
| Mnemonic | Chromosome | Position hg19 | HGVS | Pubmed links | # publications | # patients |
|---|---|---|---|---|---|---|
| c.*58T>C | 9 | 34635571 | NM_005866.4:c.*58T>C | 24684794 | 1 | 1 |
| E102Q | 9 | 34637265 | NM_005866.3:c.304G>C | 21842496 | 1 | 0 |
| Pubmed ID | First author | Year | Title | |
|---|---|---|---|---|
| 21842496 | Al-Saif | 2011 | A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis | |
| 24684794 | Kim | 2014 | Mutations in UBQLN2 and SIGMAR1 genes are rare in Korean patients with amyotrophic lateral sclerosis |