G133A (p.Gly133Ala) variant of CALM1 (Calmodulin-1)
G133A (p.Gly133Ala) in CALM1 (Calmodulin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Long QT syndrome 14; Catecholaminergic polymorphic ventricular tachycardia 4. The record also includes structural context.
G133A (p.Gly133Ala) variant details
- p.Gly133Ala
- NCI-TCGA Cosmic COSV5540
- cosmic curated COSV55400
- Uncertain significance
- Long QT syndrome 14; Catecholaminergic polymorphic ventricular tachycardia 4
- Missense
- ClinVar: Uncertain significance (Long QT syndrome 14; Catecholaminergic polymorphic ventricular t)
- UniProt: Uncertain significance
- Structural context available