Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA p.Ile843_Asp846del (p.I843_D846del), ENSG00000282278 p.Ile603_Asp606del (p.I603_D606del)
(
ENST00000257290.10 )
PDGFRA p.Ile843_Asp846del (p.I843_D846del), ENSG00000282278 p.Ile603_Asp606del (p.I603_D606del) ( ENST00000257290.10 ) - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- ClinVar
- Description
- NM_006206.6(PDGFRA):c.2526_2537del (p.Ile843_Asp846del) AND Gastrointestinal stromal tumor
- ClinVar Allele ID
- 28583
- ClinVar RefSeq Alternation Syntax
- NM_001347828.2:c.2601_2612del
- ClinVar RefSeq Alternation Syntax
- NM_001347830.2:c.2565_2576del
- ClinVar RefSeq Alternation Syntax
- NM_001347829.2:c.2526_2537del
- ClinVar RefSeq Alternation Syntax
- NM_006206.6:c.2526_2537del
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2015-07-14
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014502
- ClinVar Disease
- Gastrointestinal stromal tumor
- Observed Origin Sample
- somatic
- Pubmed
- 12522257
Drugs