I116T (p.Ile116Thr) variant of SMN1 (Survival motor neuron protein)
I116T (p.Ile116Thr) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spinal muscular atrophy; Werdnig-Hoffmann disease; Kugelberg-Welander disease. The record also includes published literature.
I116T (p.Ile116Thr) variant details
- p.Ile116Thr
- rs2532112594
- ClinVar RCV004576117
- ClinVar RCV004691644
- Likely pathogenic
- Spinal muscular atrophy; Werdnig-Hoffmann disease; Kugelberg-Welander disease
- Missense
- ClinVar: Likely pathogenic (Spinal muscular atrophy; Werdnig-Hoffmann disease; Kugelberg-Wel)
- EBI: Likely pathogenic (in SMA1)
- UniProt: Likely pathogenic (in SMA1)
- Cited in: Consensus statement for standard of care in spinal muscular atrophy. (PMID 17761659)
- Cited in: Spinal Muscular Atrophy. (PMID 20301526)