Annotation Detail
Information
- Associated Genes
- CALM1 LOC112272566
- Associated Variants
-
CALM1 c.-218C>T
CALM1 c.-218C>T - Associated Disease
- long QT syndrome 14 catecholaminergic polymorphic ventricular tachycardia 4
- Source Database
- ClinVar
- Description
- NM_006888.5(CALM1):c.-218C>T AND multiple conditions
- ClinVar Allele ID
- 1157368
- ClinVar RefSeq Alternation Syntax
- NM_001363669.2:c.-106+355C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001510397
- ClinVar Disease
- Long QT syndrome 14
- ClinVar Disease
- Catecholaminergic polymorphic ventricular tachycardia 4
- Observed Origin Sample
- germline
Drugs