N337S (p.Asn337Ser) variant of KIF1A (Kinesin-like protein KIF1A)
N337S (p.Asn337Ser) 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.
N337S (p.Asn337Ser) variant details
- p.Asn337Ser
- rs2537957124
- ClinGen CA351296721
- ClinVar RCV003030716
- ClinVar RCV003030717
- 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
- UniProt: Uncertain significance
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)