RGD:153001741 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:153001741 -  Homo sapiens

RGD ID: 153001741
RS ID: rs1060503192
ClinVar ID: CV1684837
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSC1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 135,773,000
GRCh38 9 132,897,613
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_486t1:c.2626-3C>A
NM_000368.5:c.2626-3C>A
NM_001162427.2:c.2473-3C>A
NC_000009.11:g.135773000G>T
More... 		03/16/2022 intron variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TSC1
Accession:NM_001162427
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001162426
Location:INTRON

Gene Symbol:TSC1
Accession:NM_000368
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC1
Accession:XM_011518979
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001362177
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406620
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406618
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406625
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406621
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406617
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406613
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406612
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406610
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406627
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406629
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406603
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406609
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406597
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406602
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406606
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406592
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406600
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406595
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406619
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406598
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406607
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406593
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406596
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406622
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406614
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406611
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406628
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406626
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406604
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406608
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406601
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406605
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406630
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406624
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406616
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406623
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406615
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406599
Location:INTRON

Gene Symbol:TSC1
Accession:NM_001406594
Location:INTRON

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002257184 CLINVAR
dbSNP (RS) rs1060503192 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene TSC1 CLINVAR
OMIM 605284 CLINVAR
SNOMED CT 699346009 CLINVAR