Variant "VEGFA:c.-460C>T"
Search result: 1 record
Variant information
Gene:
VEGFA 
Variant:
VEGFA:c.-460C>T 
Genomic location:
chr6:43737486(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001025366.2:c.-958C>T
protein_coding NM_001025367.2:c.-958C>T
protein_coding NM_001025368.2:c.-958C>T
protein_coding NM_001025369.2:c.-958C>T
protein_coding NM_001025370.2:c.-958C>T
protein_coding NM_001033756.2:c.-958C>T
protein_coding NM_001171622.1:c.-958C>T
protein_coding NM_001171623.1:c.-1498C>T
protein_coding NM_001171624.1:c.-1498C>T
protein_coding NM_001171625.1:c.-1498C>T
protein_coding NM_001171626.1:c.-1498C>T
protein_coding NM_001171627.1:c.-1498C>T
protein_coding NM_001171628.1:c.-1498C>T
protein_coding NM_001171629.1:c.-1498C>T
protein_coding NM_001171630.1:c.-1498C>T
protein_coding NM_001204384.1:c.-1498C>T
protein_coding NM_001204385.1:c.-958C>T
protein_coding NM_001317010.1:c.-1498C>T
protein_coding NM_003376.5:c.-958C>T
protein_coding NM_001287044.1:c.-4610C>T
MRPS18A-VEGFA:n.43737486C>T
show all
dbSNP ID:
rs833061  
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:
    VEGFA gene polymorphisms might prove useful as a prognostic marker for development of PXE associated retinopathy leading to earlier therapeutic intervention in order to prevent loss of central vision.
    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.