N211K (p.Asn211Lys) variant of KIF1A (Kinesin-like protein KIF1A)
N211K (p.Asn211Lys) 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.
N211K (p.Asn211Lys) variant details
- p.Asn211Lys
- rs2054552679
- ClinGen CA351304881
- ClinVar RCV002999932
- 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 (in KAND)
- UniProt: Uncertain significance (in KAND)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)