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.Ile843_Asp846del (p.I843_D846del), ENSG00000282278 p.Ile603_Asp606del (p.I603_D606del) ( ENST00000257290.10 )
PDGFRA p.His845_Asn848del (p.H845_N848del), ENSG00000282278 p.His605_Asn608del (p.H605_N608del) ( ENST00000257290.10 )
PDGFRA p.Arg560_Ser564del (p.R560_S564del), ENSG00000282278 c.1018-59_1018-45delGGGTCATTGAATCAA ( ENST00000257290.10 )
PDGFRA p.Ile843_Asp846del (p.I843_D846del), ENSG00000282278 p.Ile603_Asp606del (p.I603_D606del) ( ENST00000257290.10 )
PDGFRA p.His845_Asn848del (p.H845_N848del), ENSG00000282278 p.His605_Asn608del (p.H605_N608del) ( ENST00000257290.10 )
PDGFRA p.Ser566_Glu571delinsArg (p.S566_E571delinsR), ENSG00000282278 c.1018-42_1018-25delinsCGC ( ENST00000257290.10 )
PDGFRA p.Ser566_Glu571delinsArg (p.S566_E571delinsR), ENSG00000282278 c.1018-42_1018-25delinsCGC ( ENST00000257290.10 )
PDGFRA p.Val561Asp (p.V561D), ENSG00000282278 c.1018-56T>A ( ENST00000257290.10 )
PDGFRA p.Asp842Val (p.D842V), ENSG00000282278 p.Asp602Val (p.D602V) ( ENST00000257290.10 )
PDGFRA p.Val561Asp (p.V561D), ENSG00000282278 c.1018-56T>A ( ENST00000257290.10 )
PDGFRA p.Asp842Val (p.D842V), ENSG00000282278 p.Asp602Val (p.D602V) ( ENST00000257290.10 )
PDGFRA p.Arg560_Val561insArgGly (p.R560_V561insRG), ENSG00000282278 c.1018-58_1018-57insAGAGGG
PDGFRA p.Arg560_Val561insArgGly (p.R560_V561insRG), ENSG00000282278 c.1018-58_1018-57insAGAGGG - Associated Disease
- Gastrointestinal Stromal Tumors
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.615647293561465
- Year of publication
- NA
Drugs