RGD:12895319 Rat Genome Database

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Variant: RGD:12895319 -  Homo sapiens

RGD ID: 12895319
RS ID: rs1064795001
ClinVar ID: CV409187
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNHG14  UBE3A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 25,599,831
GRCh38 15 25,354,684
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354513.2:c.2065-1G>A
NM_001354523.2:c.2065-1G>A
NM_001354526.1:c.2065-1G>A
NM_130838.1:c.2065-1G>A
More...
03/26/2021 intron variant|splice acceptor variant likely pathogenic HAPPY PUPPET SYNDROME; Happy puppet syndrome (formerly); none provided
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_000462
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_130838
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_011521995
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_017022548
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_017022547
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_017022550
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354546
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354551
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354549
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354548
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354542
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354550
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354545
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354523
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354539
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354511
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354512
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354513
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354547
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354508
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354506
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354544
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354541
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354509
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354540
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354543
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354538
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354507
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354505
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001354526
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_024450043
Location:INTRON

Gene Symbol:UBE3A
Accession:NM_001374461
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433008
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433015
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433009
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433019
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433021
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433010
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433014
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433012
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433013
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433018
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433011
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433017
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433020
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433007
Location:INTRON

Gene Symbol:UBE3A
Accession:XM_047433016
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 Information

Database Acc Id Source(s)
ClinVar RCV000486030 CLINVAR
  RCV001507065 CLINVAR
dbSNP (RS) rs1064795001 CLINVAR
MedGen C0162635 CLINVAR
  CN517202 CLINVAR
NCBI Gene SNHG14 CLINVAR
  UBE3A CLINVAR
OMIM 105830 CLINVAR
  601623 CLINVAR
  616259 CLINVAR
SNOMED CT 76880004 CLINVAR