Annotation Detail
Information
- Associated Genes
- NBEAL2
- Associated Variants
-
NBEAL2 p.Pro2100Leu (p.P2100L)
(
ENST00000450053.8,
ENST00000651747.1 )
NBEAL2 p.Pro2100Leu (p.P2100L) ( ENST00000450053.8, ENST00000651747.1 ) - Associated Disease
- gray platelet syndrome
- Source Database
- ClinVar
- Description
- NM_015175.3(NBEAL2):c.6299C>T (p.Pro2100Leu) AND Gray platelet syndrome
- ClinVar Allele ID
- 40077
- ClinVar RefSeq Alternation Syntax
- NM_001365116.2:c.6197C>T
- ClinVar RefSeq Alternation Syntax
- NM_015175.3:c.6299C>T
- 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/RCV000024116
- ClinVar Disease
- Gray platelet syndrome
- Observed Origin Sample
- germline
- Pubmed
- 21765411
Drugs