L601R (p.Leu601Arg) variant of CACNA1C (Q13936)
L601R (p.Leu601Arg) in CACNA1C (Q13936) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in NEDHLSS. The record also includes published literature.
L601R (p.Leu601Arg) variant details
- p.Leu601Arg
- UniProt VAR 087760
- Pathogenic
- in NEDHLSS
- Missense
- 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)