RGD:12847792 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:12847792 -  Homo sapiens

RGD ID: 12847792
RS ID: rs370062838
ClinVar ID: CV373253
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFBR1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 101,895,039
GRCh38 9 99,132,757
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001130916.3:c.343+3657C>T
NG_007461.1:g.32628C>T
NC_000009.12:g.99132757C>T
NC_000009.11:g.101895039C>T
More... 		06/06/2022 intron variant benign|likely benign AllHighlyPenetrant; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TGFBR1
Accession:NM_001306210
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407425
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001130916
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407432
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407426
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407416
Location:INTRON

Gene Symbol:TGFBR1
Accession:XM_011518948
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407436
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407418
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407424
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_004612
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407429
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407435
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407430
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407433
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407422
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407434
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407417
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407419
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407427
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407437
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407428
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407420
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407423
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407438
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TGFBR1
Accession:NR_176361
Location:INTRON;NON-CODING

Gene Symbol:TGFBR1
Accession:NR_176363
Location:INTRON;NON-CODING

Gene Symbol:TGFBR1
Accession:NR_176360
Location:INTRON;NON-CODING

Gene Symbol:TGFBR1
Accession:NR_176362
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000444121 CLINVAR
  RCV002061542 CLINVAR
dbSNP (RS) rs370062838 CLINVAR
MedGen C4707243 CLINVAR
  CN169374 CLINVAR
NCBI Gene TGFBR1 CLINVAR
OMIM 190181 CLINVAR