Gene "GLI1"
Found 1 record
Gene information
Gene symbol:
GLI1
See related:
Ensembl: ENSG00000111087, Gene ID: 2735
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Variant 1:
    GLI1:c.820G>C(p.Gly274Arg)
    Gene:
    GLI1
    Genomic location:
    chr12:57860080
    dbSNP ID:
    rs563340967
    Target disease:
    Obesity(DOID_9970)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    The variant in GLI1 possibly exacerbates disease severity when in the homozygous state.
    Reference:
    PMID29127258
    Title:
    Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
    Species studied:
    Human
    Abstract:
    Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype.