Y30C (p.Tyr30Cys) variant of RELN (Reelin)
Y30C (p.Tyr30Cys) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Norman-Roberts syndrome; Familial temporal lobe epilepsy 7. The record also includes published literature.
Y30C (p.Tyr30Cys) variant details
- p.Tyr30Cys
- rs2484918138
- ClinGen CA368931500
- ClinVar RCV003807540
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)