G262V (p.Gly262Val) variant of KIF1A (Kinesin-like protein KIF1A)
G262V (p.Gly262Val) 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 Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel. The record also includes published literature.
G262V (p.Gly262Val) variant details
- p.Gly262Val
- rs2538276835
- ClinGen CA351302919
- ClinVar RCV002304862
- NCI-TCGA TCGA novel
- Uncertain significance
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)