RGD:15128337 Rat Genome Database

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Variant: RGD:15128337 -  Homo sapiens

RGD ID: 15128337
RS ID: rs1580805805
ClinVar ID: CV787436
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDGFRB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 149,510,229
GRCh38 5 150,130,666
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001355016.2:c.1052-4G>A
NM_002609.4:c.1244-4G>A
NM_001355017.2:c.761-4G>A
NG_023367.1:g.30194G>A
More... 		12/20/2018 intron variant likely benign Basal ganglia calcification, idiopathic, 4; Congenital generalized fibromatosis; Familial Idiopathic Basal Ganglia Calcification 4; Infantile myofibromatosis; Kosaki overgrowth syndrome; Premature aging syndrome, Penttinen type; Prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly; Progeroid syndrome, Penttinen type; SKELETAL OVERGROWTH WITH FACIAL DYSMORPHISM, HYPERELASTIC SKIN, WHITE MATTER LESIONS, AND NEUROLOGIC DETERIORATION; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PDGFRB
Accession:NM_001355017
Location:INTRON

Gene Symbol:PDGFRB
Accession:NM_002609
Location:INTRON

Gene Symbol:PDGFRB
Accession:NM_001355016
Location:INTRON

Gene Symbol:PDGFRB
Accession:NR_149150
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001413614 CLINVAR
dbSNP (RS) rs1580805805 CLINVAR
MedGen C1866182 CLINVAR
NCBI Gene PDGFRB CLINVAR
OMIM 173410 CLINVAR
  228550 CLINVAR
  601812 CLINVAR
  615007 CLINVAR
  616592 CLINVAR
SNOMED CT 254146000 CLINVAR