Variant "KCNE1:rs1805128"
Search result: 1 record
Variant information
Gene:
KCNE1 
Variant:
KCNE1:rs1805128 
Genomic location:
chr21:35821680(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001330065.1:c.262G>A(p.Asp88Asn)
protein_coding NM_000219.5:c.253G>A(p.Asp85Asn)
protein_coding NM_001127670.3:c.253G>A(p.Asp85Asn)
protein_coding NM_001127668.3:c.253G>A(p.Asp85Asn)
protein_coding NM_001127669.3:c.253G>A(p.Asp85Asn)
protein_coding NM_001270405.2:c.253G>A(p.Asp85Asn)
protein_coding NM_001270403.2:c.253G>A(p.Asp85Asn)
protein_coding NM_001270402.2:c.253G>A(p.Asp85Asn)
protein_coding NM_001270404.2:c.253G>A(p.Asp85Asn)
show all
dbSNP ID:
rs1805128  
GWAS trait:
QT interval 
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:
    Risk factor
    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.