RGD:11632334 Rat Genome Database

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Variant: RGD:11632334 -  Homo sapiens

RGD ID: 11632334
RS ID: rs545638472
ClinVar ID: CV350873
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNMT3B  LOC130065670  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 31,350,349
GRCh38 20 32,762,543
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_56t1:c.-163A>C
LRG_56:g.5159A>C
NG_007290.1:g.5159A>C
NC_000020.11:g.32762543A>C
More... 		06/14/2016 5 prime utr variant uncertain significance childhood <1 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNMT3B
Accession:NM_001424354
Location:5UTRS;EXON

Gene Symbol:DNMT3B
Accession:NM_175849
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:DNMT3B
Accession:NM_001424355
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:DNMT3B
Accession:NM_006892
Location:5UTRS;EXON

Gene Symbol:DNMT3B
Accession:NM_175848
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:DNMT3B
Accession:NM_001424357
Location:5UTRS;EXON

Gene Symbol:DNMT3B
Accession:NM_001207056
Location:5UTRS;EXON

Gene Symbol:DNMT3B
Accession:NM_001424358
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:DNMT3B
Accession:NM_001424356
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:DNMT3B
Accession:NM_001207055
Location:5UTRS;EXON

Gene Symbol:DNMT3B
Accession:NM_001424351
Location:5UTRS;EXON

Gene Symbol:DNMT3B
Accession:NM_001424353
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:DNMT3B
Accession:NM_001424352
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439946
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439959
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439960
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424360
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424359
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439955
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_175850
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439950
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439949
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439956
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000405442 CLINVAR
dbSNP (RS) rs545638472 CLINVAR
MedGen C4551557 CLINVAR
NCBI Gene DNMT3B CLINVAR
  LOC130065670 CLINVAR
OMIM 242860 CLINVAR
  602900 CLINVAR