Q35E (p.Gln35Glu) variant of SLC6A1 (P30531)
Q35E (p.Gln35Glu) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epilepsy with myoclonic atonic seizures. The record also includes published literature and structural context.
Q35E (p.Gln35Glu) variant details
- p.Gln35Glu
- rs2470188129
- ClinGen CA351788183
- ClinVar RCV005058251
- Uncertain significance
- Epilepsy with myoclonic atonic seizures
- Missense
- ClinVar: Uncertain significance (Epilepsy with myoclonic atonic seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)