Gene "F8"
Found 1 record
Gene information
Gene symbol:
F8
See related:
Ensembl: ENSG00000185010, Gene ID: 2157
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Variant 1:
    F8:rs1050705
    Gene:
    F8
    Genomic location:
    dbSNP ID:
    rs1050705
    Target disease:
    Hemophilia A(Orphanet_98878)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Gene activity study 
    Effect:
    miR‐26a‐5p and miR‐26b‐5p, predicted to bind with favourable energetic scores at the polymorphic region c.8728 when allele G is present may act as phenotype modifiers in HA patients.
    Reference:
    PMID27228178
    Title:
    A germline variant affects putative miRNA-binding sites at the F8 3'UTR and acts as a potential haemophilia A phenotype modifier in Southern Brazilian patients.
    Species studied:
    Human
    Abstract:
    No data