Variant "CFTR:c.1364C>A(p.Ala455Glu)"
Search result: 1 record
Variant information
Gene:
CFTR 
Variant:
CFTR:c.1364C>A(p.Ala455Glu) 
Genomic location:
chr7:117188849(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000492.3:c.1364C>A(p.Ala455Glu)
protein_coding 1XMI:A_455-A_617:NM_000492.3:c.1364C>A
protein_coding 1XMI:B_455-B_617:NM_000492.3:c.1364C>A
protein_coding 1XMI:C_455-C_615:NM_000492.3:c.1364C>A
protein_coding 1XMI:C_455-C_617:NM_000492.3:c.1364C>A
protein_coding 1XMI:D_455-D_617:NM_000492.3:c.1364C>A
protein_coding 1XMI:E_455-E_615:NM_000492.3:c.1364C>A
protein_coding 1XMI:E_455-E_617:NM_000492.3:c.1364C>A
protein_coding 1XMJ:A_455-A_617:NM_000492.3:c.1364C>A
protein_coding 2BBO:A_455-A_615:NM_000492.3:c.1364C>A
protein_coding 2BBO:A_455-A_617:NM_000492.3:c.1364C>A
protein_coding 2BBS:A_455-A_615:NM_000492.3:c.1364C>A
protein_coding 2BBS:A_455-A_617:NM_000492.3:c.1364C>A
protein_coding 2BBS:B_455-B_617:NM_000492.3:c.1364C>A
protein_coding 2BBT:A_455-A_617:NM_000492.3:c.1364C>A
protein_coding 2BBT:B_455-B_617:NM_000492.3:c.1364C>A
protein_coding 2PZE:A_455-A_615:NM_000492.3:c.1364C>A
protein_coding 2PZE:A_455-A_617:NM_000492.3:c.1364C>A
protein_coding 2PZE:B_455-B_615:NM_000492.3:c.1364C>A
protein_coding 2PZE:B_455-B_617:NM_000492.3:c.1364C>A
protein_coding 2PZF:A_455-A_615:NM_000492.3:c.1364C>A
protein_coding 2PZF:A_455-A_617:NM_000492.3:c.1364C>A
protein_coding 2PZF:B_455-B_615:NM_000492.3:c.1364C>A
protein_coding 2PZF:B_455-B_617:NM_000492.3:c.1364C>A
protein_coding 2PZG:A_455-A_615:NM_000492.3:c.1364C>A
protein_coding 2PZG:A_455-A_617:NM_000492.3:c.1364C>A
protein_coding 2PZG:B_455-B_615:NM_000492.3:c.1364C>A
protein_coding 2PZG:B_455-B_617:NM_000492.3:c.1364C>A
show all
dbSNP ID:
rs74551128  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    From review article 
    Effect:
    Genetic modifiers of CF-associated liver disease
    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.