RGD:8621636 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:8621636 -  Homo sapiens

RGD ID: 8621636
RS ID: rs397514790
ClinVar ID: CV75650
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSC1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 135,770,226
GRCh38 9 132,894,839
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012386.1:g.54795T>C
NC_000009.12:g.132894839A>G
NC_000009.11:g.135770226A>G
p.(=)
More... 		3 prime utr variant|utr-3 not provided Tuberous sclerosis

Variant Details
Variant Transcripts
Gene Symbol:TSC1
Accession:NM_001162427
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001162426
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_000368
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:XM_011518979
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001362177
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406620
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406618
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406625
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406621
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406617
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406613
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406612
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406610
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406627
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406629
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406603
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406609
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406597
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406602
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406606
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406592
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406600
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406595
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406619
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406598
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406607
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406593
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406596
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406622
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406614
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406611
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406628
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406626
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406604
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406608
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406601
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406605
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406630
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406624
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406616
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406623
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406615
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406599
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NM_001406594
Location:3UTRS;EXON

Gene Symbol:TSC1
Accession:NR_176216
Location:EXON;NON-CODING

Gene Symbol:TSC1
Accession:NR_176217
Location:EXON;NON-CODING

Gene Symbol:TSC1
Accession:NR_176214
Location:EXON;NON-CODING

Gene Symbol:TSC1
Accession:NR_176218
Location:EXON;NON-CODING

Gene Symbol:TSC1
Accession:NR_176215
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000054899 CLINVAR
dbSNP (RS) rs397514790 CLINVAR
MedGen C0041341 CLINVAR
NCBI Gene TSC1 CLINVAR
OMIM 191100 CLINVAR
  605284 CLINVAR
SNOMED CT 7199000 CLINVAR