Annotation Detail
Information
- Associated Genes
- ITGB3
- Associated Variants
-
ITGB3 p.Arg169Gln (p.R169Q)
(
ENST00000571680.1,
ENST00000559488.7,
ENST00000696963.1 )
ITGB3 p.Arg169Gln (p.R169Q) ( ENST00000559488.7, ENST00000571680.1, ENST00000696963.1 ) - Associated Disease
- Glanzmann thrombasthenia
- Source Database
- ClinVar
- Description
- NM_000212.3(ITGB3):c.506G>A (p.Arg169Gln) AND Glanzmann thrombasthenia
- ClinVar Allele ID
- 28596
- ClinVar RefSeq Alternation Syntax
- NM_000212.3:c.506G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-08-07
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001124484
- ClinVar Disease
- Glanzmann thrombasthenia
- Observed Origin Sample
- germline
Drugs