G357R (p.Gly357Arg) variant of TARDBP (TAR DNA-binding protein 43)
G357R (p.Gly357Arg) in TARDBP (TAR DNA-binding protein 43) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGENERATION WITH TD. The record also includes published literature.
G357R (p.Gly357Arg) variant details
- p.Gly357Arg
- Conflicting interpretations
- Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGENERATION WITH TD
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGE)
- UniProt: Conflicting interpretations (in ALS10)
- Cited in: Novel TARDBP mutations in Nordic ALS patients. (PMID 22456481)