Variant "MEFV:c.2177T>C(p.Val726Ala)"
Search result: 1 record
Variant information
Gene:
MEFV 
Variant:
MEFV:c.2177T>C(p.Val726Ala) 
Genomic location:
chr16:3293310(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000243.2:c.2177T>C(p.Val726Ala)
protein_coding 4CG4:B_726-B_746:NM_000243.2:c.2177T>C
protein_coding NM_001198536.1:c.*381T>C
dbSNP ID:
rs28940579  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Behcet's Disease (DOID_13241)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Carriers experience thrombosis more often [54% vs. 17%, p<0.005, odds ratio (OR) = 6.9, 95% confidence interval (CI) 1.75–26.9] and uveitis less often (20% vs. 40%, p<0.05, OR=0.2, 95% ci 0.04–0.92) 
    Effect:
    The three most common MEFV mutations (M694V, V726A, and E148Q) may predispose to development of Behcet's disease with increased risk for venous thrombosis.
    Reference:
    PMID17454935
    Title:
    Common FMF alleles may predispose to development of Behcet's disease with increased risk for venous thrombosis.
    Species studied:
    Human
    Abstract:
    Behcet's disease (BD) is an inflammatory disorder of unknown cause, associated with vasculitis. Arterial or venous thrombosis occurs in about 25% of BD patients. Familial Mediterranean fever (FMF) is another inflammatory disorder, which stems from mutations in the FMF gene (MEFV) and shares a number of features with BD.