Annotation Detail
Information
- Associated Genes
- ITGB3 EFCAB13-DT
- Associated Variants
-
ITGB3 c.*1016T>A
(
ENST00000559488.7 )
ITGB3 c.*1016T>A ( ENST00000559488.7 ) - Associated Disease
- Glanzmann thrombasthenia
- Source Database
- ClinVar
- Description
- NM_000212.3(ITGB3):c.*1016T>A AND Glanzmann thrombasthenia
- ClinVar Allele ID
- 346367
- ClinVar RefSeq Alternation Syntax
- NM_000212.3:c.*1016T>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000370303
- ClinVar Disease
- Glanzmann thrombasthenia
- Observed Origin Sample
- germline
Drugs