Variant "ABCA4:c.6148G>C(p.Val2050Leu)"
Search results: 3 records
Variant information
Gene:
ABCA4 
Variant:
ABCA4:c.6148G>C(p.Val2050Leu) 
Genomic location:
chr1:94467548(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000350.2:c.6148G>C(p.Val2050Leu)
Alias:
ABCA4:rs41292677 
dbSNP ID:
rs41292677  
GWAS trait:
no data 
Modifier statisitcs
Record:
3 
Disorder:
3 
Reference:
1 
Effect type:
Expressivity(3)  
Modifier effect:
Altered severity(3)  
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.
    Alias in reference:
    ABCA4:c.6148G>C(p.Val2050Leu)
    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.
    Alias in reference:
    ABCA4:c.6148G>C(p.Val2050Leu)
    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:
    Patterned macular dystrophy (DOID_0060863)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Pedigree analysis 
    Effect:
    Patients carrying all three mutations were the most severely affected.
    Alias in reference:
    ABCA4:rs41292677
    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.