Variant "ABCA4:p.Arg229His"
Search results: 2 records
Variant information
Gene:
ABCA4 
Variant:
ABCA4:p.Arg229His 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
2 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Altered severity(2)  
Details：
  • Target disease:
    Cone-Rod Dystrophy (DOID_0050572)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Pedigree analysis 
    Effect:
    PRPH2-associated phenotype might be modulated by additional mutations in other genes (in this family ABCA4 and/or ROM1) accounting for intrafamilial variability and resulting in a cumulative effect worsening the phenotype. Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 are tested for additional mutations in ABCA4 and ROM1 as they might alter the progression of the PRPH2 phenotype.
    Reference:
    PMID20335603
    Title:
    ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
    Species studied:
    Human
    Abstract:
    To identify the causative mutation leading to autosomal dominant macular dystrophy, cone dystrophy, and cone-rod dystrophy in a five-generation family and to explain the high intrafamilial phenotypic variation by identifying possible modifier genes.
  • Target disease:
    Macular Corneal Dystrophy (DOID_2565)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Pedigree analysis 
    Effect:
    PRPH2-associated phenotype might be modulated by additional mutations in other genes (in this family ABCA4 and/or ROM1) accounting for intrafamilial variability and resulting in a cumulative effect worsening the phenotype. Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 are tested for additional mutations in ABCA4 and ROM1 as they might alter the progression of the PRPH2 phenotype.
    Reference:
    PMID20335603
    Title:
    ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
    Species studied:
    Human
    Abstract:
    To identify the causative mutation leading to autosomal dominant macular dystrophy, cone dystrophy, and cone-rod dystrophy in a five-generation family and to explain the high intrafamilial phenotypic variation by identifying possible modifier genes.