RGD:13213064 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:13213064 -  Homo sapiens

RGD ID: 13213064
RS ID: rs371855601
ClinVar ID: CV428045
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNMT3A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 25,457,292
GRCh38 2 25,234,423
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_459t2:c.2031-3C>T
LRG_459t4:c.2598-3C>T
NM_153759.3:c.2031-3C>T
NM_175629.2:c.2598-3C>T
More... 		03/26/2022 intron variant likely benign|uncertain significance AllHighlyPenetrant; Tall stature-intellectual disability-facial dysmorphism syndrome; Tatton-Brown-rahman syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNMT3A
Accession:NM_175630
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_175629
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_017003527
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443599
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_011532667
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_011532662
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_001320893
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443592
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443596
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443593
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_022552
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_011532664
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443597
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_001320892
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_153759
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_005264175
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_011532666
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_017003526
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443598
Location:INTRON

Gene Symbol:DNMT3A
Accession:NM_001375819
Location:INTRON

Gene Symbol:DNMT3A
Accession:XM_047443594
Location:INTRON

Gene Symbol:DNMT3A
Accession:NR_135490
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000499457 CLINVAR
  RCV002527239 CLINVAR
  RCV003900041 CLINVAR
dbSNP (RS) rs371855601 CLINVAR
MedGen C4014545 CLINVAR
  CN169374 CLINVAR
NCBI Gene DNMT3A CLINVAR
OMIM 602769 CLINVAR
  615879 CLINVAR