RGD:8568801 Rat Genome Database

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Variant: RGD:8568801 -  Homo sapiens

RGD ID: 8568801
RS ID: rs1267369024
ClinVar ID: CV40069
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRDM5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 121,843,670
GRCh38 4 120,922,515
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
NM_001300823.2:c.93+1G>A
NG_031862.2:g.5344G>A
NM_001300824.2:c.93+1G>A
NM_001379104.1:c.93+1G>A
More... 		11/28/2012 splice donor variant pathogenic neonatal/infancy <1 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRDM5
Accession:XM_011531566
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_011531565
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_011531563
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_047449558
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_017007670
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_047449554
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_047449555
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_047449556
Location:INTRON

Gene Symbol:PRDM5
Accession:NM_001300824
Location:INTRON

Gene Symbol:PRDM5
Accession:NM_001379104
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_017007671
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_011531568
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_017007668
Location:INTRON

Gene Symbol:PRDM5
Accession:NM_001379106
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_047449557
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_011531564
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_005262708
Location:INTRON

Gene Symbol:PRDM5
Accession:NM_001300823
Location:INTRON

Gene Symbol:PRDM5
Accession:XM_047449559
Location:INTRON

Gene Symbol:PRDM5
Accession:NM_018699
Location:INTRON

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

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

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

Variant Samples
Additional References at PubMed
PMID:8458232   PMID:21664999  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000024108 CLINVAR
dbSNP (RS) rs1267369024 CLINVAR
MedGen C3280011 CLINVAR
NCBI Gene PRDM5 CLINVAR
OMIM 614161 CLINVAR
  614170 CLINVAR
OMIM Allele 614161.0003 CLINVAR