RGD:11598003 Rat Genome Database

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Variant: RGD:11598003 -  Homo sapiens

RGD ID: 11598003
RS ID: rs201965676
ClinVar ID: CV296910
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRDM5  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 121,675,700
GRCh38 4 120,754,545
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_031862.2:g.173314T>C
NC_000004.12:g.120754545A>G
NC_000004.11:g.121675700A>G
NM_018699.2:c.1623+8T>C
More... 		06/05/2018 intron variant likely benign|uncertain significance infancy <1 / 1 000 000 none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRDM5
Accession:XM_011531564
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_017007668
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_047449559
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_011531563
Location:INTRON

Gene Symbol:PRDM5
Accession:NM_001300823
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_047449556
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_005262708
Location:INTRON

Gene Symbol:PRDM5
Accession:NM_001379104
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_047449554
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_047449557
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_047449555
Location:INTRON

Gene Symbol:PRDM5
Accession:NM_018699
Location:INTRON

Gene Symbol:PRDM5
Accession:NM_001300824
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_017007670
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_011531566
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_011531565
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_011531568
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_017007671
Location:INTRON

Gene Symbol:PRDM5
Accession:NM_001379106
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_047449558
Location:INTRON

Gene Symbol:PRDM5
Accession:XR_938680
Location:INTRON;NON-CODING

Gene Symbol:PRDM5
Accession:XR_938679
Location:INTRON;NON-CODING

Gene Symbol:PRDM5
Accession:XR_938678
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000400599 CLINVAR
  RCV000922730 CLINVAR
dbSNP (RS) rs201965676 CLINVAR
MedGen C3280011 CLINVAR
  C3661900 CLINVAR
NCBI Gene PRDM5 CLINVAR
OMIM 614161 CLINVAR
  614170 CLINVAR