RGD:21067571 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:21067571 -  Homo sapiens

RGD ID: 21067571
RS ID: rs1601471441
ClinVar ID: CV626018
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124905121  TNRC6B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 40,663,042
GRCh38 22 40,267,038
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001162501.2:c.2806+2T>C
NM_015088.3:c.2806+2T>C
NC_000022.11:g.40267038T>C
NC_000022.10:g.40663042T>C
More... 		05/04/2018 intron variant uncertain significance Atypical behavior; Autistic behavior; Behavioral abnormality
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:TNRC6B
Accession:NM_001024843
Location:INTRON

Gene Symbol:TNRC6B
Accession:NM_015088
Location:INTRON

Gene Symbol:TNRC6B
Accession:NM_001162501
Location:INTRON

Gene Symbol:LOC124905121
Accession:XR_007068107
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000993769 CLINVAR
dbSNP (RS) rs1601471441 CLINVAR
MedGen C0557874 CLINVAR
NCBI Gene TNRC6B CLINVAR
OMIM 610740 CLINVAR