Variant "ABCB4:c.1529A>G(p.Asn510Ser)"
Search result: 1 record
Variant information
Gene:
ABCB4 
Variant:
ABCB4:c.1529A>G(p.Asn510Ser) 
Genomic location:
chr7:87069546(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_018849.2:c.1529A>G(p.Asn510Ser)
protein_coding NM_000443.3:c.1529A>G(p.Asn510Ser)
protein_coding NM_018850.2:c.1529A>G(p.Asn510Ser)
dbSNP ID:
rs375315619  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Detail：
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    May enhance the activity of the protein and thus exert a protective effect toward liver disease
    Reference:
    PMID19467940
    Title:
    An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study.
    Species studied:
    Human
    Abstract:
    Cystic fibrosis is the most common lethal recessive disorder among Caucasians. Over 1500 mutations have been identified in cystic fibrosis transmembrane conductance regulator disease-gene so far. A large variability of the clinical phenotype has been observed both in cystic fibrosis patients bearing the same genotype, and in affected sibpairs. Thus, genes inherited independently from cystic fibrosis transmembrane conductance regulator could modulate the clinical expression of cystic fibrosis.