Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA p.Thr674Ile (p.T674I), ENSG00000282278 p.Thr434Ile (p.T434I)
(
ENST00000257290.10 )
PDGFRA p.Thr674Ile (p.T674I), ENSG00000282278 p.Thr434Ile (p.T434I) ( ENST00000257290.10 ) - Associated Disease
- Hypereosinophilic syndrome, idiopathic, resistant to imatinib
- Source Database
- ClinVar
- Description
- NM_006206.6(PDGFRA):c.2021C>T (p.Thr674Ile) AND Hypereosinophilic syndrome, idiopathic, resistant to imatinib
- ClinVar Allele ID
- 28589
- ClinVar RefSeq Alternation Syntax
- NM_006206.6:c.2021C>T
- ClinVar RefSeq Alternation Syntax
- NM_001347827.2:c.2021C>T
- ClinVar RefSeq Alternation Syntax
- NM_001347830.2:c.2060C>T
- ClinVar RefSeq Alternation Syntax
- NM_001347829.2:c.2021C>T
- ClinVar RefSeq Alternation Syntax
- NM_001347828.2:c.2096C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2003-03-27
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014509
- ClinVar Disease
- Hypereosinophilic syndrome, idiopathic, resistant to imatinib
- Observed Origin Sample
- germline
- Pubmed
- 12660384
Drugs