A582D (p.Ala582Asp) variant of CACNA1C (Q13936)
A582D (p.Ala582Asp) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Long QT syndrome 8. The record also includes published literature.
A582D (p.Ala582Asp) variant details
- p.Ala582Asp
- UniProt VAR 075156
- Pathogenic
- Long QT syndrome 8
- Missense
- ClinVar: Pathogenic (Long QT syndrome 8)
- EBI: Pathogenic (in LQT8)
- UniProt: Pathogenic (in LQT8)
- Cited in: Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes. (PMID 24728418)
- Cited in: Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C… (PMID 23677916)