Variant "AKAP9:c.48+11042C>T"
Search results: 2 records
Variant information
Gene:
AKAP9 
Variant:
AKAP9:c.48+11042C>T 
Genomic location:
chr7:91581503(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_005751.4:c.48+11042C>T
protein_coding NM_147185.2:c.48+11042C>T
dbSNP ID:
rs11772585  
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
1 
Reference:
2 
Effect type:
Expressivity(2)  
Modifier effect:
Altered severity(2)  
Details：
  • Target disease:
    Long QT Syndrome (DOID_2843)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    From review article 
    Effect:
    Increase QT symptoms
    Reference:
    PMID30215713
    Title:
    Modifier genes for sudden cardiac death.
    Species studied:
    Human
    Abstract:
    Genetic conditions, even those associated with identical gene mutations, can present with variable clinical manifestations. One widely accepted explanation for this phenomenon is the existence of genetic factors capable of modifying the consequences of disease-causing mutations (modifier genes). Here, we address the concepts and principles by which genetic factors may be involved in modifying risk for cardiac arrhythmia, then discuss the current knowledge and interpretation of their contribution to clinical heterogeneity. We illustrate these concepts in the context of two important clinical conditions associated with risk for sudden cardiac death including a monogenic disorder (congenital long QT syndrome) in which the impact of modifier genes has been established, and a complex trait (life-threatening arrhythmias in acute myocardial infarction) for which the search for genetic modifiers of arrhythmic risk is more challenging. Advances in understanding the contribution of modifier genes to a higher or lower propensity towards sudden death should improve patient-specific risk stratification and be a major step towards precision medicine.
  • Target disease:
    Long QT Syndrome (DOID_2843)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.002 
    Effect:
    The rs11772585 T allele increased disease severity (P=0.025).
    Reference:
    PMID25087618
    Title:
    AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.
    Species studied:
    Human
    Abstract:
    Long-QT syndrome (LQTS), a cardiac arrhythmia disorder with variable phenotype, often results in devastating outcomes, including sudden cardiac death. Variable expression, independently from the primary disease-causing mutation, can partly be explained by genetic modifiers. This study investigates variants in a known LQTS-causative gene, AKAP9, for potential LQTS-type 1-modifying effects.