PDGFRB gene homepage

General information
Gene symbol PDGFRB
Gene name platelet-derived growth factor receptor, beta polypeptide
Chromosome 5
Chromosomal band q33.1
Imprinted Unknown
Genomic reference NG_023367.1
Transcript reference NM_002609.3
Exon/intron information NM_002609.3 exon/intron table
Associated with diseases IBGC-4, IMF-1, KOGS, PENTT, Myeloproliferative disorder, chronic, with eosinophilia
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 140
Unique public DNA variants reported 93
Individuals with public variants 18
Hidden variants 5
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated March 23, 2020
Version PDGFRB:200323

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_002609.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/PDGFRB
HGNC 8804
Entrez Gene 5159
PubMed articles PDGFRB
OMIM - Gene 173410
OMIM - Diseases IBGC-4 (calcification, basal ganglia, idiopathic, type 4 (IBGC-4))
IMF-1 (myofibromatosis, infantile, type 1 (IMF-1))
KOGS (Kosaki overgrowth syndrome (KOGS))
PENTT (aging, premature, syndrome, Penttinen type (PENTT))
Myeloproliferative disorder, chronic, with eosinophilia
HGMD PDGFRB
GeneCards PDGFRB
GeneTests PDGFRB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00015903 5 platelet-derived growth factor receptor, beta polypeptide NM_002609.3 NP_002600.1 140


Copyright & disclaimer
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