V1187A (p.Val1187Ala) variant of CACNA1C (Q13936)
V1187A (p.Val1187Ala) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Long QT syndrome; not provided; Timothy syndrome. The record also includes published literature.
V1187A (p.Val1187Ala) variant details
- p.Val1187Ala
- UniProt VAR 087768
- Pathogenic/Likely pathogenic
- Long QT syndrome; not provided; Timothy syndrome
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Long QT syndrome; not provided; 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)