RGD:14722957 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:14722957 -  Homo sapiens

RGD ID: 14722957
RS ID: rs1592362719
ClinVar ID: CV652731
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBK1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 64,868,171
GRCh38 12 64,474,391
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1306t1:c.701+1G>A
NM_013254.4:c.701+1G>A
LRG_1306:g.27332G>A
NG_046906.1:g.27332G>A
More... 		01/01/2022 splice donor variant pathogenic|likely pathogenic Charcot disease; FTDALS4; Lou Gehrig disease
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:TBK1
Accession:XM_005268810
Location:INTRON

Gene Symbol:TBK1
Accession:XM_005268809
Location:INTRON

Gene Symbol:TBK1
Accession:NM_013254
Location:INTRON

Gene Symbol:TBK1
Accession:XR_007063071
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:25741868   PMID:25803835   PMID:26476236   PMID:26581300   PMID:28492532   PMID:33245169  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000797764 CLINVAR
  RCV001843550 CLINVAR
  RCV003411753 CLINVAR
dbSNP (RS) rs1592362719 CLINVAR
MedGen C0002736 CLINVAR
  C4225325 CLINVAR
NCBI Gene TBK1 CLINVAR
OMIM 604834 CLINVAR
  616439 CLINVAR
SNOMED CT 86044005 CLINVAR