Y62C (p.Tyr62Cys) variant of CACNA1A (O00555)
Y62C (p.Tyr62Cys) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; Focal ep. The record also includes published literature and structural context.
Y62C (p.Tyr62Cys) variant details
- p.Tyr62Cys
- rs2513709034
- ClinGen CA404971022
- ClinVar RCV003233020
- ClinVar RCV003779849
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; Focal ep
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 42; Episodic ataxia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)