Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Arg1623Ter (p.R1623*)
(
ENST00000423572.7,
ENST00000450102.6,
ENST00000455624.6,
ENST00000413689.6,
ENST00000449557.6,
ENST00000333535.9,
ENST00000414099.6 )
SCN5A p.Arg1623Ter (p.R1623*) ( ENST00000423572.7, ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- long QT syndrome 3 Brugada syndrome 1 sudden infant death syndrome Sick sinus syndrome 1 Atrial fibrillation, familial, 10 dilated cardiomyopathy 1E Ventricular fibrillation, paroxysmal familial, type 1 Progressive familial heart block, type 1A
- Source Database
- ClinVar
- Description
- NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) AND multiple conditions
- ClinVar Allele ID
- 24413
- ClinVar RefSeq Alternation Syntax
- NM_001099405.2:c.4813C>T
- ClinVar RefSeq Alternation Syntax
- NM_001160160.2:c.4768C>T
- ClinVar RefSeq Alternation Syntax
- NM_001160161.2:c.4705C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354701.2:c.4810C>T
- ClinVar RefSeq Alternation Syntax
- NM_198056.3:c.4867C>T
- ClinVar RefSeq Alternation Syntax
- NM_001099404.2:c.4867C>T
- ClinVar RefSeq Alternation Syntax
- NM_000335.5:c.4864C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-10-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002496317
- ClinVar Disease
- Progressive familial heart block, type 1A
- ClinVar Disease
- Long QT syndrome 3
- ClinVar Disease
- Ventricular fibrillation, paroxysmal familial, type 1
- ClinVar Disease
- Brugada syndrome 1
- ClinVar Disease
- Sick sinus syndrome 1
- ClinVar Disease
- Dilated cardiomyopathy 1E
- ClinVar Disease
- SUDDEN INFANT DEATH SYNDROME
- ClinVar Disease
- Atrial fibrillation, familial, 10
- Observed Origin Sample
- unknown
Drugs