RGD:405009072 Rat Genome Database

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Variant: RGD:405009072 -  Homo sapiens

RGD ID: 405009072
ClinVar ID: CV2883295
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDGFRA  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 55,136,780
GRCh38 4 54,270,613
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001347827.2:c.1122-20C>A
NM_001347829.2:c.1122-20C>A
NM_006206.6:c.1122-20C>A
NM_001347830.2:c.1161-20C>A
More... 		09/26/2023 intron variant likely benign Gastrointestinal stroma tumor; Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PDGFRA
Accession:NM_006206
Location:INTRON

Gene Symbol:PDGFRA
Accession:XM_005265743
Location:INTRON

Gene Symbol:PDGFRA
Accession:XM_006714041
Location:INTRON

Gene Symbol:PDGFRA
Accession:XM_017008281
Location:INTRON

Gene Symbol:PDGFRA
Accession:NM_001347828
Location:INTRON

Gene Symbol:PDGFRA
Accession:NM_001347827
Location:INTRON

Gene Symbol:PDGFRA
Accession:NM_001347829
Location:INTRON

Gene Symbol:PDGFRA
Accession:NM_001347830
Location:INTRON

Gene Symbol:PDGFRA
Accession:XM_047415767
Location:INTRON

Gene Symbol:PDGFRA
Accession:XM_047415766
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003527068 CLINVAR
MedGen C0238198 CLINVAR
NCBI Gene PDGFRA CLINVAR
OMIM 173490 CLINVAR
  606764 CLINVAR