M611T (p.Met611Thr) variant of CACNA1C (Q13936)
M611T (p.Met611Thr) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Brugada syndrome 3; Long QT syndrome 8. The record also includes published literature.
M611T (p.Met611Thr) variant details
- p.Met611Thr
- UniProt VAR 087761
- Pathogenic/Likely pathogenic
- not provided; Brugada syndrome 3; Long QT syndrome 8
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Brugada syndrome 3; Long QT syndrome 8)
- 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)