Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA p.Asp842Ile (p.D842I), ENSG00000282278 p.Asp602Ile (p.D602I)
(
ENST00000257290.10 )
PDGFRA p.Asp842Ile (p.D842I), ENSG00000282278 p.Asp602Ile (p.D602I) ( ENST00000257290.10 ) - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- ClinVar
- Description
- NM_006206.6(PDGFRA):c.2524_2525delinsAT (p.Asp842Ile) AND Gastrointestinal stromal tumor
- ClinVar Allele ID
- 362934
- ClinVar RefSeq Alternation Syntax
- NM_001347829.2:c.2524_2525delinsAT
- ClinVar RefSeq Alternation Syntax
- NM_001347828.2:c.2599_2600delinsAT
- ClinVar RefSeq Alternation Syntax
- NM_001347830.2:c.2563_2564delinsAT
- ClinVar RefSeq Alternation Syntax
- NM_006206.6:c.2524_2525delinsAT
- Clinical Significance Description
- 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/RCV000437652
- ClinVar Disease
- Gastrointestinal stromal tumor
- Observed Origin Sample
- somatic
Drugs