Variant "ADRB2:c.893_900dup(p.Glu307_Glu309dup)"
Search result: 1 record
Variant information
Gene:
ADRB2 
Variant:
ADRB2:c.893_900dup(p.Glu307_Glu309dup) 
Genomic location:
chr2:96780988-96780989(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000682.6:c.893_900dup(p.Glu301fs)
dbSNP ID:
rs28365031  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • 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.