Annotation Detail
Information
- Associated Genes
- NBEAL2
- Associated Variants
-
NBEAL2 p.Trp608Ter (p.W608*)
(
ENST00000450053.8,
ENST00000651747.1 )
NBEAL2 p.Trp608Ter (p.W608*) ( ENST00000450053.8, ENST00000651747.1 ) - Associated Disease
- gray platelet syndrome
- Source Database
- ClinVar
- Description
- NM_015175.3(NBEAL2):c.1823G>A (p.Trp608Ter) AND Gray platelet syndrome
- ClinVar Allele ID
- 40078
- ClinVar RefSeq Alternation Syntax
- NM_015175.3:c.1823G>A
- ClinVar RefSeq Alternation Syntax
- NM_001365116.2:c.1721G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2011-07-17
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000024117
- ClinVar Disease
- Gray platelet syndrome
- Observed Origin Sample
- germline
- Pubmed
- 21765413
Drugs