Variant "GLI1:c.820G>C(p.Gly274Arg)"
Search result: 1 record
Variant information
Gene:
GLI1 
Variant:
GLI1:c.820G>C(p.Gly274Arg) 
Genomic location:
chr12:57860080(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_005269.2:c.820G>C(p.Gly274Arg)
protein_coding NM_001167609.1:c.697G>C(p.Gly233Arg)
protein_coding NM_001160045.1:c.436G>C(p.Gly146Arg)
dbSNP ID:
rs563340967  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • 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.