Variant "ABCC6:c.3803G>A(p.Arg1268Gln)"
Search result: 1 record
Variant information
Gene:
ABCC6 
Variant:
ABCC6:c.3803G>A(p.Arg1268Gln) 
Genomic location:
chr16:16251599(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001171.5:c.3803G>A(p.Arg1268Gln)
dbSNP ID:
rs2238472  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Pseudoxanthoma Elasticum (DOID_2738)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    From review article 
    Effect:
    ABCC6 mutations on a single allele might determine a mild PXE phenotype
    Reference:
    PMID23802012
    Title:
    New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers.
    Species studied:
    Human
    Abstract:
    Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%. Although 25% of the unidentified disease alleles underlie deletions/insertions, there remain several PXE patients with no clear genotype. The recent identification of PXE-related diseases and the high intra-familiar and inter-individual clinical variability of PXE led to the assumption that secondary genetic co-factors exist. Here, we summarize current knowledge of the genetics underlying PXE and PXE-related disorders based on human and animal studies. Furthermore, we discuss the role of genetic interactions and modifier genes in PXE and PXE-related diseases characterized by soft tissue calcification.