G320D (p.Gly320Asp) variant of KIF1A (Kinesin-like protein KIF1A)
G320D (p.Gly320Asp) 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.
G320D (p.Gly320Asp) variant details
- p.Gly320Asp
- rs2537958202
- ClinGen CA351297033
- ClinVar RCV002298278
- 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)