Annotation Detail

Information
Associated Genes
IRS1
Associated Variants
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
Associated Disease
Coronary artery disease, susceptibility to
Source Database
ClinVar
Description
NM_005544.3(IRS1):c.2911G>A (p.Gly971Arg) AND Coronary artery disease, susceptibility to
ClinVar Allele ID
38716
ClinVar RefSeq Alternation Syntax
NM_005544.3:c.2911G>A
Clinical Significance Description
risk factor
Clinical Significance Last Update
2004-07-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000022625
ClinVar Disease
Coronary artery disease, susceptibility to
Observed Origin Sample
germline
Pubmed
14707024
Pubmed
10843189
Pubmed
15240653
Pubmed
10591678
Pubmed
8104271
Pubmed
12843189
Pubmed
8647950
Pubmed
1311924
Pubmed
10430617
Pubmed
10084586
Pubmed
14671192
Pubmed
7623569
Drugs