Annotation Detail
Information
- Associated Genes
- ACTA2
- Associated Variants
-
ACTA2 p.Arg179His (p.R179H)
(
ENST00000224784.10,
ENST00000458159.6,
ENST00000415557.2,
ENST00000371927.7,
ENST00000713597.1,
ENST00000713598.1,
ENST00000713599.1,
ENST00000713600.1,
ENST00000713601.1,
ENST00000713602.1 )
ACTA2 p.Arg149Cys (p.R149C) ( ENST00000713597.1, ENST00000224784.10, ENST00000713600.1, ENST00000713601.1, ENST00000415557.2, ENST00000713598.1, ENST00000371927.7, ENST00000713602.1, ENST00000713599.1, ENST00000458159.6 )
ACTA2 p.Met49Val (p.M49V) ( ENST00000713602.1, ENST00000371927.7, ENST00000713598.1, ENST00000458159.6, ENST00000713599.1, ENST00000713600.1, ENST00000713597.1, ENST00000224784.10, ENST00000415557.2, ENST00000713601.1 )
ACTA2 p.Arg39Cys (p.R39C) ( ENST00000224784.10, ENST00000371927.7, ENST00000458159.6, ENST00000415557.2, ENST00000713597.1, ENST00000713598.1, ENST00000713599.1, ENST00000713600.1, ENST00000713601.1, ENST00000713602.1 )
ACTA2 p.Arg39Gly (p.R39G) ( ENST00000224784.10, ENST00000713597.1, ENST00000713600.1, ENST00000415557.2, ENST00000713601.1, ENST00000713598.1, ENST00000713602.1, ENST00000371927.7, ENST00000713599.1, ENST00000458159.6 )
ACTA2 p.Arg179His (p.R179H) ( ENST00000713601.1, ENST00000224784.10, ENST00000415557.2, ENST00000458159.6, ENST00000713597.1, ENST00000713598.1, ENST00000713599.1, ENST00000713600.1, ENST00000713602.1, ENST00000371927.7 )
ACTA2 p.Arg149Cys (p.R149C) ( ENST00000224784.10, ENST00000415557.2, ENST00000458159.6, ENST00000713597.1, ENST00000713598.1, ENST00000713599.1, ENST00000713600.1, ENST00000713601.1, ENST00000713602.1, ENST00000371927.7 )
ACTA2 p.Met49Val (p.M49V) ( ENST00000224784.10, ENST00000415557.2, ENST00000458159.6, ENST00000713597.1, ENST00000713598.1, ENST00000713599.1, ENST00000713600.1, ENST00000713601.1, ENST00000713602.1, ENST00000371927.7 )
ACTA2 p.Arg39Cys (p.R39C) ( ENST00000224784.10, ENST00000415557.2, ENST00000458159.6, ENST00000713597.1, ENST00000713598.1, ENST00000713599.1, ENST00000713600.1, ENST00000713601.1, ENST00000713602.1, ENST00000371927.7 )
ACTA2 p.Arg39Gly (p.R39G) ( ENST00000224784.10, ENST00000415557.2, ENST00000458159.6, ENST00000713597.1, ENST00000713598.1, ENST00000713599.1, ENST00000713600.1, ENST00000713601.1, ENST00000713602.1, ENST00000371927.7 ) - Associated Disease
- Aortic aneurysm, familial thoracic 6
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs