RGD:26886262 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:26886262 -  Homo sapiens

RGD ID: 26886262
RS ID: rs760385371
ClinVar ID: CV851449
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LTBP3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 65,315,385
GRCh38 11 65,547,914
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.9:g.65315385G>C
NM_001164266.1:c.1495+6C>G
NG_016437.1:g.15315C>G
NC_000011.10:g.65547914G>C
More... 		06/15/2022 intron variant likely benign|uncertain significance Amelogenesis imperfecta and platyspondyly; Dental anomalies and short stature; Platyspondyly with amelogenesis imperfecta; Skeletal dysplasia with amelogenesis imperfecta and platyspondyly; Tooth agenesis, selective, 6; Verloes Bourguignon syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LTBP3
Accession:NM_001164266
Location:INTRON

Gene Symbol:LTBP3
Accession:NM_001130144
Location:INTRON

Gene Symbol:LTBP3
Accession:NM_021070
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001065950 CLINVAR
  RCV003945799 CLINVAR
dbSNP (RS) rs760385371 CLINVAR
MedGen C1832594 CLINVAR
NCBI Gene LTBP3 CLINVAR
OMIM 601216 CLINVAR
  602090 CLINVAR
  613097 CLINVAR