G109R (p.Gly109Arg) variant of KIF1A (Kinesin-like protein KIF1A)
G109R (p.Gly109Arg) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal domi. The record also includes published literature and structural context.
G109R (p.Gly109Arg) variant details
- p.Gly109Arg
- rs2538436392
- ClinGen CA351310119
- ClinVar RCV003057659
- Uncertain significance
- Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal domi
- Missense
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory, type 2C; Intellectual disability)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)