Gene "ADRA2C"
Found 1 record
Gene information
Gene symbol:
ADRA2C
See related:
Ensembl: ENSG00000184160, Gene ID: 152
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Variant 1:
    ADRA2C:p.Gly322_Pro325del
    Gene:
    ADRA2C
    Genomic location:
    dbSNP ID:
    Target disease:
    Long QT Syndrome(DOID_2843)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    From review article 
    Effect:
    Functional polymorphisms in genes encoding adrenergic receptors (ADRB1, ADRB2 and ADRA2C) may contribute to an increasing arrhythmic risk in Finnish and South African LQT1 founder populations
    Reference:
    PMID23856471
    Title:
    Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.
    Species studied:
    Human
    Abstract:
    Long-QT syndrome (LQTS) is characterized by such striking clinical heterogeneity that, even among family members carrying the same mutation, clinical outcome can range between sudden death and no symptoms. We investigated the role of genetic variants as modifiers of risk for cardiac events in patients with LQTS.