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
PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM
Source Database
ClinVar
Description
NM_000212.3(ITGB3):c.176T>C (p.Leu59Pro) AND PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM
Observed Origin Sample
germline
Pubmed
11723016
Pubmed
17264806
Pubmed
8838346
Pubmed
8598867
Pubmed
7570918
Pubmed
8667943
Pubmed
9700201
Pubmed
2014236
Pubmed
10583927
ClinVar Allele ID
28597
ClinVar RefSeq Alternation Syntax
NM_000212.3:c.176T>C
Clinical Significance Description
Benign
Clinical Significance Last Update
2007-01-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000014519
ClinVar Disease
PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM
Drugs