M436T (p.Met436Thr) variant of SPTBN2 (O15020)
M436T (p.Met436Thr) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Spinocerebellar ataxia type 5. The record also includes published literature.
M436T (p.Met436Thr) variant details
- p.Met436Thr
- rs1554986345
- ClinGen CA381481186
- ClinVar RCV000520415
- ClinVar RCV001027673
- Likely pathogenic
- not provided; Spinocerebellar ataxia type 5
- Missense
- ClinVar: Likely pathogenic (not provided; Spinocerebellar ataxia type 5)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)