RGD:11628811 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:11628811 -  Homo sapiens

RGD ID: 11628811
RS ID: rs2424926
ClinVar ID: CV345066
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNMT3B  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 31,387,951
GRCh38 20 32,800,145
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.1760-8C>G
LRG_56:g.42761C>G
NG_007290.1:g.42761C>G
NC_000020.11:g.32800145C>G
More... 		03/06/2019 intron variant benign|likely benign|conflicting interpretations of pathogenicity childhood <1 / 1 000 000 Centromeric instability, immunodeficiency syndrome; ICF syndrome; Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16; Immunodeficiency syndrome, variable; Immunodeficiency-centromeric instability-facial anomalies; none provided

Variant Details
Variant Transcripts
Gene Symbol:DNMT3B
Accession:NM_001424353
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424357
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439956
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424352
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424360
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_175850
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439960
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424358
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_006892
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424356
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001207055
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439949
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_175849
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439946
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439959
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424355
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424351
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439955
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424354
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_175848
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001207056
Location:INTRON

Gene Symbol:DNMT3B
Accession:XM_047439950
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DNMT3B
Accession:NM_001424359
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000309459 CLINVAR
  RCV000859840 CLINVAR
  RCV003656633 CLINVAR
  RCV003922475 CLINVAR
dbSNP (RS) rs2424926 CLINVAR
MedGen C0398788 CLINVAR
  C3661900 CLINVAR
  C4551557 CLINVAR
NCBI Gene DNMT3B CLINVAR
OMIM 242860 CLINVAR
  602900 CLINVAR
SNOMED CT 234633000 CLINVAR