E267G (p.Glu267Gly) variant of KIF1A (Kinesin-like protein KIF1A)
E267G (p.Glu267Gly) 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; Hereditary spastic paraplegia 30; Intel. The record also includes published literature.
E267G (p.Glu267Gly) variant details
- p.Glu267Gly
- rs2538259388
- ClinGen CA351302710
- ClinVar RCV003813450
- Uncertain significance
- Neuropathy, hereditary sensory, type 2C; Hereditary spastic paraplegia 30; Intel
- Missense
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory, type 2C; Hereditary spastic para)
- EBI: Variant of uncertain significance (in KAND)
- UniProt: Uncertain significance (in KAND)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)