Variant "CFTR:c.1521_1523delCTT(p.Phe508del)"
Search results: 2 records
Variant information
Gene:
CFTR 
Variant:
CFTR:c.1521_1523delCTT(p.Phe508del) 
Alias:
CFTR:p.F508del 
dbSNP ID:
rs113993960  
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
1 
Reference:
2 
Effect type:
Expressivity(2)  
Modifier effect:
Risk factor(2)  
Details：
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    From review article 
    Effect:
    In DF508 mutant mice increased faecal bile acid loss leads to more hydrophobic bile salts in hepatic bile and to hyperbilirubinbilia
    Alias in reference:
    CFTR:c.1521_1523delCTT(p.Phe508del)
    Reference:
    PMID20955961
    Title:
    Cystic fibrosis-associated liver disease.
    Species studied:
    Human
    Abstract:
    Liver disease is increasingly common in cystic fibrosis (CF). As new therapeutic options emerge, life expectancy increases and common hepatobiliary manifestations impact on quality of life and survival of CF patients. Hepatobiliary abnormalities in CF vary in nature and range from defects attributable to the underlying CFTR gene defect to those related to systemic disease and malnutrition. Today complications of liver disease represent the third most frequent cause of disease-related death in patients with CF. Here we review molecular and clinical genetics of CF, including genetic modifiers of CF-associated liver disease, and provide practical recommendations for genetic testing, diagnosis and treatment of hepatobiliary manifestations in CF.
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    From review article 
    Effect:
    F508del-CFTR exhibits multiple defects in protein folding, maturation, and delivery with only a small percentage delivered to the cell surface
    Alias in reference:
    CFTR:p.F508del
    Reference:
    PMID26073768
    Title:
    Precision Genomic Medicine in Cystic Fibrosis.
    Species studied:
    Human
    Abstract:
    The successful application of precision genomic medicine requires an understanding of how a person's genome can influence his or her disease phenotype and how medical therapies can provide personalized therapy to one's genotype. In this review, we highlight advances in precision genomic medicine in cystic fibrosis (CF), a classic autosomal recessive genetic disorder. We discuss genotype-phenotype correlations in CF, genetic and environmental modifiers of disease, and pharmacogenetic therapies that target specific genetic mutations thereby addressing the primary defect of cystic fibrosis.