R13C (p.Arg13Cys) variant of KIF1A (Kinesin-like protein KIF1A)
R13C (p.Arg13Cys) 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 Hereditary spastic paraplegia 30; Intellectual disability, autosomal dominant 9. The record also includes published literature.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- UniProt VAR 086844
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia 30; Intellectual disability, autosomal dominant 9
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spastic paraplegia 30; Intellectual disability, autos)
- EBI: Variant of uncertain significance (in KAND)
- UniProt: Uncertain significance (in KAND)
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)