I66T (p.Ile66Thr) variant of SCN9A (Q15858)
I66T (p.Ile66Thr) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with. The record also includes published literature and structural context.
I66T (p.Ile66Thr) variant details
- p.Ile66Thr
- rs2468154056
- ClinGen CA349095896
- ClinVar RCV003809947
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)