Variant "COL3A1:c.2035G>A(p.Ala679Thr)"
Search result: 1 record
Variant information
Gene:
COL3A1 
Variant:
COL3A1:c.2035G>A(p.Ala679Thr) 
Genomic location:
chr2:189864023(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000090.3:c.2035G>A(p.Ala679Thr)
pseudogene NR_037401.1:n.*3605G>A
dbSNP ID:
rs41263773  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Thoracic Aortic Aneurysm (DOID_14004)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Pedigree analysis and gene activity study 
    Effect:
    Genetic modifiers of TAA severity
    Reference:
    PMID28550590
    Title:
    Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity.
    Species studied:
    Human
    Abstract:
    Thoracic aortic aneurysm (TAA) is a genetic disease predisposing to aortic dissection. It is important to identify the genetic modifiers controlling penetrance and expressivity to improve clinical prognostication. Exome sequencing was performed in 27 subjects with syndromic or familial TAA presenting with extreme phenotypes (15 with severe TAA; 12 with mild or absent TAA). Family-based analysis of a subset of the cohort identified variants, genes, and pathways segregating with TAA severity among three families. A rare missense variant in ADCK4 (p.Arg63Trp) segregated with mild TAA in each family. Genes and pathways identified in families were further investigated in the entire cohort using the optimal unified sequence kernel association test, finding significance for the gene COL15A1 (p = 0.025) and the retina homeostasis pathway (p = 0.035). Thus, we identified candidate genetic modifiers of TAA severity by exome-based study of extreme phenotypes, which may lead to improved risk stratification and development of new medical therapies.