Variant "SERPINA1:c.1096G>A(p.Glu366Lys)"
Search results: 2 records
Variant information
Gene:
SERPINA1 
Variant:
SERPINA1:c.1096G>A(p.Glu366Lys) 
Genomic location:
chr14:94844947(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000295.4:c.1096G>A(p.Glu366Lys)
protein_coding NM_001002235.2:c.1096G>A(p.Glu366Lys)
protein_coding NM_001002236.2:c.1096G>A(p.Glu366Lys)
protein_coding NM_001127700.1:c.1096G>A(p.Glu366Lys)
protein_coding NM_001127701.1:c.1096G>A(p.Glu366Lys)
protein_coding NM_001127702.1:c.1096G>A(p.Glu366Lys)
protein_coding NM_001127703.1:c.1096G>A(p.Glu366Lys)
protein_coding NM_001127704.1:c.1096G>A(p.Glu366Lys)
protein_coding NM_001127705.1:c.1096G>A(p.Glu366Lys)
protein_coding NM_001127706.1:c.1096G>A(p.Glu366Lys)
protein_coding NM_001127707.1:c.1096G>A(p.Glu366Lys)
show all
dbSNP ID:
rs28929474  
GWAS trait:
glucagon measurement,glucose tolerance test,anti-neutrophil antibody associated vasculitis,forced expiratory volume,response to bronchodilator,FEV/FEC ratio,breast size,blood metabolite measurement,protein measurement,amino acid measurement,serum alanine aminotransferase measurement,body height,blood protein measurement,smoking behavior,systolic blood pressure,heel bone mineral density,gallstones,lean body mass 
Modifier statisitcs
Record:
2 
Disorder:
1 
Reference:
2 
Effect type:
Expressivity(2)  
Modifier effect:
Altered severity(1) ,Risk factor(1)  
Details：
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    HR=1.6; 95% CI: 1.1-2.4, P=0.019 
    Effect:
    CF patients carrying the SERPINA1 Z allele had an increased risk of developing CFLD and related complications compared with noncarriers.
    Reference:
    PMID30739910
    Title:
    SERPINA1 Z allele is associated with cystic fibrosis liver disease.
    Species studied:
    Human
    Abstract:
    The SERPINA1 Z allele is associated with cystic fibrosis (CF)-related liver disease (CFLD), a common manifestation in patients with CF. We estimated CFLD incidence based on the SERPINA1 genotype in 3328 CF patients with CFLD-phenotype information.
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    OR=4.72; 95% CI: 2.31-9.61; P=3.3×10(-6) 
    Effect:
    Patients who carry the Z allele are at greater risk of developing severe liver disease with portal hypertension.
    Reference:
    PMID19738092
    Title:
    Genetic modifiers of liver disease in cystic fibrosis.
    Species studied:
    Human
    Abstract:
    A subset (approximately 3%-5%) of patients with cystic fibrosis (CF) develops severe liver disease with portal hypertension.