Q353R (p.Gln353Arg) variant of KIF1A (Kinesin-like protein KIF1A)
Q353R (p.Gln353Arg) 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.
Q353R (p.Gln353Arg) variant details
- p.Gln353Arg
- rs2537929765
- ClinGen CA351295851
- ClinVar RCV003017347
- 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
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)