Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA p.Asp842Val (p.D842V), ENSG00000282278 p.Asp602Val (p.D602V)
(
ENST00000257290.10 )
PDGFRA p.Asp842Val (p.D842V), ENSG00000282278 p.Asp602Val (p.D602V) ( ENST00000257290.10 ) - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- ClinVar
- Description
- NM_006206.6(PDGFRA):c.2525A>T (p.Asp842Val) AND Gastrointestinal stromal tumor
- ClinVar Allele ID
- 28582
- ClinVar RefSeq Alternation Syntax
- NM_001347828.2:c.2600A>T
- ClinVar RefSeq Alternation Syntax
- NM_001347830.2:c.2564A>T
- ClinVar RefSeq Alternation Syntax
- NM_001347829.2:c.2525A>T
- ClinVar RefSeq Alternation Syntax
- NM_006206.6:c.2525A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-03-10
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014501
- ClinVar Disease
- Gastrointestinal stromal tumor
- Observed Origin Sample
- somatic
- Pubmed
- 17087943
- Pubmed
- 12522257
Drugs