N211D (p.Asn211Asp) variant of KIF1A (Kinesin-like protein KIF1A)
N211D (p.Asn211Asp) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neuropathy, hereditary sensory and autonomic, type 2A; Hereditary spastic parapl. The record also includes published literature.
N211D (p.Asn211Asp) variant details
- p.Asn211Asp
- rs2538309390
- ClinGen CA351304895
- ClinVar RCV003883385
- Pathogenic
- Neuropathy, hereditary sensory and autonomic, type 2A; Hereditary spastic parapl
- Missense
- ClinVar: Pathogenic (Neuropathy, hereditary sensory and autonomic, type 2A; Hereditar)
- EBI: Pathogenic (in KAND)
- UniProt: Pathogenic (in KAND)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)