RGD:13532673 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:13532673 -  Homo sapiens

RGD ID: 13532673
RS ID: rs1553234339
ClinVar ID: CV511149
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL11A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 103,477,968
GRCh38 1 103,012,412
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.103012412C>T
NC_000001.10:g.103477968C>T
NM_001854.3:c.1629+1G>A
NM_001190709.2:c.1512+1G>A
More... 		06/02/2017 splice donor variant likely pathogenic none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL11A1
Accession:NM_001854
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000334
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000335
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_080630
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_080629
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_001190709
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000337
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000336
Location:INTRON

Gene Symbol:COL11A1
Accession:NR_134980
Location:INTRON;NON-CODING

Gene Symbol:COL11A1
Accession:XR_007085257
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:20513134   PMID:21035103   PMID:23922384   PMID:25240749   PMID:28492532   PMID:32427345   PMID:32756486  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000624424 CLINVAR
  RCV002531910 CLINVAR
dbSNP (RS) rs1553234339 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene COL11A1 CLINVAR
OMIM 120280 CLINVAR