Variant "CP:p.Phe435*"
Search result: 1 record
Variant information
Gene:
CP 
Variant:
CP:p.Phe435* 
Mouse homolog:
Cp:p.Arg435* 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Detail：
  • Target disease:
    Hemochromatosis (DOID_2352)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    Gene activity study 
    Effect:
    Cp and HFE and represents the first example of a modifier gene with a protective effect, in which heterozygosity reduces the iron load in the context of HFE deficiency
    Reference:
    PMID17258727
    Title:
    Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene.
    Species studied:
    Mouse
    Abstract:
    Genetic hemochromatosis is one of the most common genetic disorders, with progressive tissue iron overload leading to severe clinical complications. In Northern European populations, genetic hemochromatosis is usually caused by homozygosity for the C282Y mutation in the HFE protein. However, penetrance of this mutation is incomplete, suggesting that other genetic and environmental factors contribute to its differential biologic or clinical expression.