Annotation Detail
Information
- Associated Genes
- CAV3 OXTR
- Associated Variants
-
CAV3 p.Thr78Met (p.T78M)
(
ENST00000343849.3,
ENST00000397368.2 )
CAV3 p.Thr78Met (p.T78M) ( ENST00000343849.3, ENST00000397368.2 ) - Associated Disease
- long QT syndrome
- Source Database
- ClinVar
- Description
- NM_033337.3(CAV3):c.233C>T (p.Thr78Met) AND Long QT syndrome
- ClinVar Allele ID
- 23332
- ClinVar RefSeq Alternation Syntax
- NM_033337.3:c.233C>T
- ClinVar RefSeq Alternation Syntax
- NM_001234.5:c.233C>T
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000168328
- ClinVar Disease
- Long QT syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Observed Origin Sample
- maternal
Drugs