Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA p.His845_Asn848del (p.H845_N848del), ENSG00000282278 p.His605_Asn608del (p.H605_N608del)
(
ENST00000257290.10 )
PDGFRA p.His845_Asn848del (p.H845_N848del), ENSG00000282278 p.His605_Asn608del (p.H605_N608del) ( ENST00000257290.10 ) - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- ClinVar
- Description
- NM_006206.6(PDGFRA):c.2533_2544del (p.His845_Asn848del) AND Gastrointestinal stromal tumor
- ClinVar Allele ID
- 28584
- ClinVar RefSeq Alternation Syntax
- NM_006206.6:c.2533_2544del
- ClinVar RefSeq Alternation Syntax
- NM_001347828.2:c.2608_2619del
- ClinVar RefSeq Alternation Syntax
- NM_001347830.2:c.2572_2583del
- ClinVar RefSeq Alternation Syntax
- NM_001347829.2:c.2533_2544del
- 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/RCV000014503
- ClinVar Disease
- Gastrointestinal stromal tumor
- Observed Origin Sample
- somatic
- Pubmed
- 12522257
Drugs