Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA p.Val561Asp (p.V561D), ENSG00000282278 c.1018-56T>A
(
ENST00000257290.10 )
PDGFRA p.Val561Asp (p.V561D), ENSG00000282278 c.1018-56T>A ( ENST00000257290.10 ) - Associated Disease
- Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
- Source Database
- ClinVar
- Description
- NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp) AND Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
- ClinVar Allele ID
- 28585
- ClinVar RefSeq Alternation Syntax
- NM_006206.6:c.1682T>A
- ClinVar RefSeq Alternation Syntax
- NM_001347828.2:c.1757T>A
- ClinVar RefSeq Alternation Syntax
- NM_001347829.2:c.1682T>A
- ClinVar RefSeq Alternation Syntax
- NM_001347830.2:c.1721T>A
- ClinVar RefSeq Alternation Syntax
- NM_001347827.2:c.1682T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2007-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000787298
- ClinVar Disease
- Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
- Observed Origin Sample
- unknown
- Pubmed
- 12522257
- Pubmed
- 17566086
Drugs