RGD:9589399 Rat Genome Database

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Variant: RGD:9589399 -  Homo sapiens

RGD ID: 9589399
RS ID: rs367646993
ClinVar ID: CV165930
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNHG14  UBE3A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 25,620,582
GRCh38 15 25,375,435
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
LRG_15t1:c.301+30G>A
LRG_15:g.68547G>A
NG_009268.1:g.68547G>A
NC_000015.10:g.25375435C>T
More... 		02/14/2014 intron variant uncertain significance neonatal/infancy 1-9 / 100 000 HAPPY PUPPET SYNDROME; Happy puppet syndrome (formerly)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:UBE3A
Accession:NM_130839
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354542
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354512
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354506
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354538
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433007
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354508
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433019
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433020
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_130838
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433013
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433017
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354539
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354513
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_000462
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354549
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354548
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354550
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354540
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001374461
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433010
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_017022548
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354523
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354547
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354541
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354543
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354505
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_011521995
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354511
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354507
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_024450043
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433021
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_017022547
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433015
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354551
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354544
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433008
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_017022550
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354526
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433014
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433016
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354546
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354545
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354509
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433009
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433012
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433018
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433011
Location:INTRON

Gene Symbol:SNHG14
Accession:NR_146177
Location:INTRON;NON-CODING

Gene Symbol:UBE3A
Accession:NR_148916
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25212744  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000144334 CLINVAR
dbSNP (RS) rs367646993 CLINVAR
MedGen C0162635 CLINVAR
NCBI Gene SNHG14 CLINVAR
  UBE3A CLINVAR
OMIM 105830 CLINVAR
  601623 CLINVAR
  616259 CLINVAR
SNOMED CT 76880004 CLINVAR