R437Q (p.Arg437Gln) variant of SPTBN2 (O15020)
R437Q (p.Arg437Gln) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Spinocerebellar ataxia type 5; not provided. The record also includes published literature.
R437Q (p.Arg437Gln) variant details
- p.Arg437Gln
- rs1554986337
- ClinGen CA381481174
- ClinVar RCV000658607
- ClinVar RCV000677650
- Pathogenic/Likely pathogenic
- Spinocerebellar ataxia type 5; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Spinocerebellar ataxia type 5; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)