Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA p.Val561Ala (p.V561A), ENSG00000282278 c.1018-56T>C
(
ENST00000257290.10 )
PDGFRA p.Val561Ala (p.V561A), ENSG00000282278 c.1018-56T>C ( ENST00000257290.10 ) - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- ClinVar
- Description
- NM_006206.6(PDGFRA):c.1682T>C (p.Val561Ala) AND Gastrointestinal stromal tumor
- ClinVar Allele ID
- 363233
- ClinVar RefSeq Alternation Syntax
- NM_006206.6:c.1682T>C
- ClinVar RefSeq Alternation Syntax
- NM_001347827.2:c.1682T>C
- ClinVar RefSeq Alternation Syntax
- NM_001347828.2:c.1757T>C
- ClinVar RefSeq Alternation Syntax
- NM_001347830.2:c.1721T>C
- ClinVar RefSeq Alternation Syntax
- NM_001347829.2:c.1682T>C
- Clinical Significance Description
- not provided
- Clinical Significance Last Update
- 2016-03-10
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000437945
- ClinVar Disease
- Gastrointestinal stromal tumor
- Observed Origin Sample
- somatic
Drugs