RGD:11544547 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:11544547 -  Homo sapiens

RGD ID: 11544547
RS ID: rs2242588
ClinVar ID: CV252481
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL9A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 71,012,575
GRCh38 6 70,302,872
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011654.1:g.5212A>G
NC_000006.12:g.70302872T>C
NC_000006.11:g.71012575T>C
NM_001851.6:c.14+39A>G
More... 		06/26/2018 intron variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:COL9A1
Accession:XM_047418180
Location:INTRON

Gene Symbol:COL9A1
Accession:XM_047418179
Location:INTRON

Gene Symbol:COL9A1
Accession:NM_001377291
Location:INTRON

Gene Symbol:COL9A1
Accession:NM_001851
Location:INTRON

Gene Symbol:COL9A1
Accession:XM_017010246
Location:INTRON

Gene Symbol:COL9A1
Accession:NM_078485
Location:INTRON

Gene Symbol:COL9A1
Accession:XM_011535429
Location:INTRON

Gene Symbol:COL9A1
Accession:XM_017010247
Location:INTRON

Gene Symbol:COL9A1
Accession:NM_001377290
Location:INTRON

Gene Symbol:COL9A1
Accession:NM_001377289
Location:INTRON

Gene Symbol:COL9A1
Accession:NR_165185
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000243939 CLINVAR
  RCV001610619 CLINVAR
dbSNP (RS) rs2242588 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL9A1 CLINVAR
OMIM 120210 CLINVAR