Variant "LTBP4:c.580G>A(p.Val194Ile)"
Search result: 1 record
Variant information
Gene:
LTBP4 
Variant:
LTBP4:c.580G>A(p.Val194Ile) 
Genomic location:
chr19:41111069(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001042544.1:c.580G>A(p.Val194Ile)
protein_coding NM_003573.2:c.469G>A(p.Val157Ile)
protein_coding NM_001042545.1:c.379G>A(p.Val127Ile)
dbSNP ID:
rs2303729  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered membrane damage and fibrosis(1)  
Detail：
  • Target disease:
    Duchenne Muscular Dystrophy (DOID_11723)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered membrane damage and fibrosis 
    Evidence:
    From review article 
    Effect:
    Modifiers can alter strength and ambulation in muscular dystrophy
    Reference:
    PMID26263473
    Title:
    Modifier genes and their effect on Duchenne muscular dystrophy.
    Species studied:
    Human
    Abstract:
    Recently, genetic pathways that modify the clinical severity of Duchenne muscular dystrophy (DMD) have been identified. The pathways uncovered as modifiers are useful to predict prognosis and also elucidate molecular signatures that can be manipulated therapeutically.