Gene summary Variants Phenotype Publications

Gene summary

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


Evidence summary

To be drafted

Review references To be added

Variants in ALSoD

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


Papers in ALSoD

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