V62I (p.Val62Ile) variant of CHRNA4 (P43681)
V62I (p.Val62Ile) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial sleep-related hypermotor epilepsy. The record also includes published literature.
V62I (p.Val62Ile) variant details
- p.Val62Ile
- rs2516573166
- ClinGen CA409643339
- ClinVar RCV003747101
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)