Annotation Detail

Information
Associated Genes
ACTA2
Associated Variants
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.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
ClinVar
Description
NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly) AND Aortic aneurysm, familial thoracic 6
ClinVar Allele ID
197403
ClinVar RefSeq Alternation Syntax
NM_001320855.2:c.115C>G
ClinVar RefSeq Alternation Syntax
NM_001141945.3:c.115C>G
ClinVar RefSeq Alternation Syntax
NM_001406463.1:c.115C>G
ClinVar RefSeq Alternation Syntax
NM_001613.4:c.115C>G
ClinVar RefSeq Alternation Syntax
NM_001406462.1:c.115C>G
ClinVar RefSeq Alternation Syntax
NM_001406464.1:c.115C>G
ClinVar RefSeq Alternation Syntax
NM_001406467.1:c.115C>G
ClinVar RefSeq Alternation Syntax
NM_001406466.1:c.115C>G
ClinVar RefSeq Alternation Syntax
NM_001406471.1:c.115C>G
ClinVar RefSeq Alternation Syntax
NM_001406468.1:c.115C>G
ClinVar RefSeq Alternation Syntax
NM_001406469.1:c.115C>G
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2023-08-28
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000645628
ClinVar Disease
Aortic aneurysm, familial thoracic 6
Observed Origin Sample
germline
Drugs