L12R (p.Leu12Arg) variant of RELN (Reelin)
L12R (p.Leu12Arg) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial temporal lobe epilepsy 7; Norman-Roberts syndrome. The record also includes published literature.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- rs2484918399
- ClinGen CA368931593
- ClinVar RCV003026246
- Uncertain significance
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome
- Missense
- ClinVar: Uncertain significance (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)