Annotation Detail

Information
Associated Genes
ITGB3
Associated Variants
ITGB3 p.Leu59Pro (p.L59P) ( ENST00000559488.7, ENST00000571680.1, ENST00000696963.1 )
ITGB3 p.Leu59Pro (p.L59P) ( ENST00000559488.7, ENST00000571680.1, ENST00000696963.1 )
Associated Disease
Myocardial infarction, susceptibility to
Source Database
ClinVar
Description
NM_000212.3(ITGB3):c.176T>C (p.Leu59Pro) AND Myocardial infarction, susceptibility to
ClinVar Allele ID
28597
ClinVar RefSeq Alternation Syntax
NM_000212.3:c.176T>C
Clinical Significance Description
risk factor
Clinical Significance Last Update
2007-01-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001799606
ClinVar Disease
Myocardial infarction, susceptibility to
Observed Origin Sample
germline
Pubmed
11723016
Pubmed
17264806
Pubmed
8838346
Pubmed
8598867
Pubmed
7570918
Pubmed
8667943
Pubmed
9700201
Pubmed
2014236
Pubmed
10583927
Drugs