Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA p.Arg560_Ser564del (p.R560_S564del), ENSG00000282278 c.1018-59_1018-45delGGGTCATTGAATCAA
(
ENST00000257290.10 )
PDGFRA p.Arg560_Ser564del (p.R560_S564del), ENSG00000282278 c.1018-59_1018-45delGGGTCATTGAATCAA ( ENST00000257290.10 ) - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- ClinVar
- Description
- NM_006206.6(PDGFRA):c.1679_1693del (p.Arg560_Ser564del) AND Gastrointestinal stromal tumor
- ClinVar Allele ID
- 28587
- ClinVar RefSeq Alternation Syntax
- NM_006206.6:c.1679_1693del
- ClinVar RefSeq Alternation Syntax
- NM_001347830.2:c.1718_1732del
- ClinVar RefSeq Alternation Syntax
- NM_001347828.2:c.1754_1768del
- ClinVar RefSeq Alternation Syntax
- NM_001347829.2:c.1679_1693del
- ClinVar RefSeq Alternation Syntax
- NM_001347827.2:c.1679_1693del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2003-01-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014507
- ClinVar Disease
- Gastrointestinal stromal tumor
- Observed Origin Sample
- somatic
- Pubmed
- 12522257
Drugs