Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA p.Gly853Asp (p.G853D), ENSG00000282278 p.Gly613Asp (p.G613D)
(
ENST00000257290.10 )
PDGFRA p.Gly853Asp (p.G853D), ENSG00000282278 p.Gly613Asp (p.G613D) ( ENST00000257290.10 ) - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- ClinVar
- Description
- NM_006206.6(PDGFRA):c.2558G>A (p.Gly853Asp) AND Gastrointestinal stromal tumor
- ClinVar Allele ID
- 363064
- ClinVar RefSeq Alternation Syntax
- NM_001347830.2:c.2597G>A
- ClinVar RefSeq Alternation Syntax
- NM_001347828.2:c.2633G>A
- ClinVar RefSeq Alternation Syntax
- NM_001347829.2:c.2558G>A
- ClinVar RefSeq Alternation Syntax
- NM_006206.6:c.2558G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-02-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002524692
- ClinVar Disease
- Gastrointestinal stromal tumor
- Observed Origin Sample
- germline
Drugs