Variant "KCNH2:c.2117C>T(p.Ser706Phe)"
Search result: 1 record
Variant information
Gene:
KCNH2 
Variant:
KCNH2:c.2117C>T(p.Ser706Phe) 
Genomic location:
chr7:150648037(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000238.3:c.2117C>T(p.Ser706Phe)
protein_coding NM_172056.2:c.2117C>T(p.Ser706Phe)
protein_coding NM_172057.2:c.1097C>T(p.Ser366Phe)
protein_coding NM_001204798.1:c.1097C>T(p.Ser366Phe)
dbSNP ID:
rs199472985  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered density of expressed heterozygous KCNH2 channels(1)  
Detail：
  • Target disease:
    Long QT Syndrome (DOID_2843)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered density of expressed heterozygous KCNH2 channels 
    Evidence:
    Assessment of genotype–phenotype associations and gene activity study 
    Effect:
    The S706C (KCNH2) mutation was found to reduce the current density of expressed heterozygous KCNH2 channels with a positive shift (+8 mV) of the activation curve.
    Reference:
    PMID15028050
    Title:
    Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome.
    Species studied:
    Human
    Abstract:
    Beta-blockers are widely used to prevent the lethal cardiac events associated with the long QT syndrome (LQTS), especially in KCNQ1-related LQTS (LQT1) patients. Some LQT1 patients, however, are refractory to this therapy.