T62I (p.Thr62Ile) variant of SPTBN2 (O15020)
T62I (p.Thr62Ile) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Spinocerebellar ataxia type 5. The record also includes published literature and structural context.
T62I (p.Thr62Ile) variant details
- p.Thr62Ile
- rs2135526299
- ClinGen CA381484385
- ClinVar RCV003884003
- Uncertain significance
- Spinocerebellar ataxia type 5
- Missense
- ClinVar: Uncertain significance (Spinocerebellar ataxia type 5)
- UniProt: Uncertain significance
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)