Annotation Detail
Information
- Associated Genes
- NBEAL2
- Associated Variants
-
NBEAL2 p.Ser294Ter (p.S294*)
(
ENST00000450053.8,
ENST00000651747.1 )
NBEAL2 p.Ser294Ter (p.S294*) ( ENST00000450053.8, ENST00000651747.1 ) - Associated Disease
- gray platelet syndrome
- Source Database
- ClinVar
- Description
- NM_015175.3(NBEAL2):c.881C>G (p.Ser294Ter) AND Gray platelet syndrome
- ClinVar Allele ID
- 40074
- ClinVar RefSeq Alternation Syntax
- NM_001365116.2:c.860C>G
- ClinVar RefSeq Alternation Syntax
- NM_015175.3:c.881C>G
- 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/RCV000024113
- ClinVar Disease
- Gray platelet syndrome
- Observed Origin Sample
- germline
- Pubmed
- 21765412
Drugs