V1411L (p.Val1411Leu) variant of CACNA1C (Q13936)
V1411L (p.Val1411Leu) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Timothy syndrome. The record also includes published literature.
V1411L (p.Val1411Leu) variant details
- p.Val1411Leu
- UniProt VAR 087770
- Pathogenic
- Timothy syndrome
- Missense
- ClinVar: Pathogenic (Timothy syndrome)
- EBI: Pathogenic (in NEDHLSS)
- UniProt: Pathogenic (in NEDHLSS)
- Cited in: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. (PMID 34163037)
- Cited in: Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to… (PMID 30513141)