Annotation Detail
Information
- Associated Genes
- SCN5A LOC110121269
- Associated Variants
-
SCN5A p.Ala1100Val (p.A1100V)
(
ENST00000333535.9,
ENST00000413689.6,
ENST00000414099.6,
ENST00000423572.7,
ENST00000449557.6,
ENST00000450102.6,
ENST00000455624.6 )
SCN5A p.Ala1100Val (p.A1100V) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- Atrial fibrillation, familial, 10 Progressive familial heart block, type 1A Sick sinus syndrome 1 Ventricular fibrillation, paroxysmal familial, type 1 sudden infant death syndrome long QT syndrome 3 Brugada syndrome 1 dilated cardiomyopathy 1E
- Source Database
- ClinVar
- Description
- NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val) AND multiple conditions
- ClinVar Allele ID
- 78684
- ClinVar RefSeq Alternation Syntax
- NM_001160161.2:c.3228+1506C>T
- ClinVar RefSeq Alternation Syntax
- NM_001160160.2:c.3296C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354701.2:c.3296C>T
- ClinVar RefSeq Alternation Syntax
- NM_001099404.2:c.3299C>T
- ClinVar RefSeq Alternation Syntax
- NM_000335.5:c.3296C>T
- ClinVar RefSeq Alternation Syntax
- NM_198056.3:c.3299C>T
- ClinVar RefSeq Alternation Syntax
- NM_001099405.2:c.3299C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-02-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002477200
- 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