rs11638476 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 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
Advanced Search (OLGA)

Variant: rs11638476 -  Homo sapiens

RGD ID: 11598962
RS ID: rs11638476
ClinVar ID: CV323180
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 67,485,101
GRCh38 15 67,192,763
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011990.1:g.131907G>A
NC_000015.10:g.67192763G>A
NC_000015.9:g.67485101G>A
NM_001145102.2:c.*2227G>A
More... 		05/15/2021 3 prime utr variant benign ANEURYSMS-OSTEOARTHRITIS SYNDROME; Loeys-Dietz syndrome 3; LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS; Loeys-Dietz syndrome, type 1C; none provided; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMAD3
Accession:NM_001145104
Location:3UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001407015
Location:3UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001407016
Location:3UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001145102
Location:3UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001407013
Location:3UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001407014
Location:3UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001145103
Location:3UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001407011
Location:3UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001407012
Location:3UTRS;EXON

Gene Symbol:MADH3
Accession:NM_005902
Location:3UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001407017
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000261861 CLINVAR
  RCV000301940 CLINVAR
  RCV001094319 CLINVAR
  RCV001718655 CLINVAR
dbSNP (RS) rs11638476 CLINVAR
MedGen C2697932 CLINVAR
  C3151087 CLINVAR
  C3661900 CLINVAR
  C4707243 CLINVAR
NCBI Gene SMAD3 CLINVAR
OMIM 603109 CLINVAR
  613795 CLINVAR
SNOMED CT 446263001 CLINVAR