G199R (p.Gly199Arg) variant of KIF1A (Kinesin-like protein KIF1A)
G199R (p.Gly199Arg) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant non-syndromic intellectual disability; Intellectual disabilit. The record also includes published literature.
G199R (p.Gly199Arg) variant details
- p.Gly199Arg
- UniProt VAR 083697
- Pathogenic/Likely pathogenic
- Autosomal dominant non-syndromic intellectual disability; Intellectual disabilit
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant non-syndromic intellectual disability; Intell)
- EBI: Pathogenic (in NESCAVS)
- UniProt: Pathogenic (in NESCAVS)
- Cited in: Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System… (PMID 27034427)
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)