SNTA1 Chromosome 20
Syntrophin alpha 1
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What This Gene Does
Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]
Gene Info
Gene Group
PDZ domain containing
Locus Type
gene with protein product
Location
20q11.21
Ensembl
ENSG00000101400
Associated Conditions (16)
Long QT syndrome 12
Long QT syndrome
Atrial fibrillation
Cardiovascular phenotype
Brugada syndrome
Long QT syndrome 1
Wolff-Parkinson-White pattern
Congenital long QT syndrome
SNTA1-related disorder
Ventricular fibrillation
paroxysmal familial
type 1
Ventricular tachycardia
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Key Variants
RS121434500
Conflicting classifications of pathogenicity
Long QT syndrome 12, Long QT syndrome, Atrial fibrillation
Health Risk
RS1275683627
Conflicting classifications of pathogenicity
Long QT syndrome, Long QT syndrome
Health Risk
RS137986136
Conflicting classifications of pathogenicity
Brugada syndrome, Long QT syndrome, Cardiovascular phenotype
Health Risk
RS139537086
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 12
Health Risk
RS141724500
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome 1, Long QT syndrome
Health Risk
RS141775350
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS142978180
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
Health Risk
RS144860423
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome 12, Long QT syndrome
Health Risk
RS147964932
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Wolff-Parkinson-White pattern, Long QT syndrome
Health Risk
RS149126874
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS150474420
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
Health Risk
RS150576530
Conflicting classifications of pathogenicity
Long QT syndrome, Congenital long QT syndrome, Long QT syndrome 12
Health Risk
All Variants (55)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121434500 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 12, Long QT syndrome, Atrial fibrillation |
| RS1275683627 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Long QT syndrome |
| RS137986136 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Long QT syndrome, Cardiovascular phenotype |
| RS139537086 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 12 |
| RS141724500 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome 1, Long QT syndrome |
| RS141775350 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS142978180 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS144860423 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome 12, Long QT syndrome |
| RS147964932 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Wolff-Parkinson-White pattern, Long QT syndrome |
| RS149126874 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS150474420 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS150576530 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Congenital long QT syndrome, Long QT syndrome 12 |
| RS187657721 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 12, Long QT syndrome 12 |
| RS188835994 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 12 |
| RS200241523 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS200316080 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 12 |
| RS200709948 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS200755101 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 12 |
| RS200777037 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS200865199 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS201763667 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS2146814454 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Long QT syndrome |
| RS34479952 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, SNTA1-related disorder |
| RS369876616 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 12, Long QT syndrome, Long QT syndrome 12 |
| RS370531842 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Long QT syndrome 12, Cardiovascular phenotype |
| RS371028127 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 12, Cardiovascular phenotype, Long QT syndrome 12 |
| RS371648806 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 12 |
| RS530603992 | Health Risk | Conflicting classifications of pathogenicity | Ventricular fibrillation, paroxysmal familial, type 1 |
| RS533476140 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 12, Cardiovascular phenotype, Long QT syndrome |
| RS546104057 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS559396761 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS559827815 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 12, Long QT syndrome, Cardiovascular phenotype |
| RS56157422 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Long QT syndrome 12, Cardiovascular phenotype |
| RS572545726 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 12 |
| RS745916117 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS747104878 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS747367304 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 12, Cardiovascular phenotype, Long QT syndrome 12 |
| RS748801869 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 12, Long QT syndrome, Long QT syndrome 12 |
| RS751651742 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 12 |
| RS752729935 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Long QT syndrome 12, Cardiovascular phenotype |
| RS753294770 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS755986911 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 12, Cardiovascular phenotype, Long QT syndrome |
| RS766925398 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 12 |
| RS768194552 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 12 |
| RS768667646 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS771180054 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Becker muscular dystrophy, Duchenne muscular dystrophy |
| RS772936861 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS781703999 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 12, Long QT syndrome, Cardiovascular phenotype |
| RS786205841 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Long QT syndrome 12, Cardiovascular phenotype |
| RS786205846 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 12 |