RGD:15143420 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:15143420 -  Homo sapiens

RGD ID: 15143420
RS ID: rs759013995
ClinVar ID: CV689844
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC113687175  LOC124901709  TFR2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 100,224,377
GRCh38 7 100,626,754
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001206855.3:c.1623+9C>A
NM_003227.4:c.2136+9C>A
NG_007989.1:g.19797C>A
NG_062456.1:g.249G>T
More... 		01/03/2019 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TFR2
Accession:NM_001206855
Location:INTRON

Gene Symbol:TFR2
Accession:NM_003227
Location:INTRON

Gene Symbol:LOC124901709
Accession:XR_007060454
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000865729 CLINVAR
dbSNP (RS) rs759013995 CLINVAR
MedGen C0392514 CLINVAR
NCBI Gene 113687175 CLINVAR
  TFR2 CLINVAR
OMIM 235200 CLINVAR
  604720 CLINVAR
SNOMED CT 35400008 CLINVAR