RGD:8640714 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:8640714 -  Homo sapiens

RGD ID: 8640714
RS ID: rs368643049
ClinVar ID: CV99700
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 47,410,381
GRCh38 21 45,990,467
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_475t1:c.1002+45T>C
LRG_475:g.13719T>C
NG_008674.1:g.13719T>C
NC_000021.9:g.45990467T>C
More... 		09/07/2012 intron|intron variant benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:COL6A1
Accession:NM_001848
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000079735 CLINVAR
dbSNP (RS) rs368643049 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene COL6A1 CLINVAR
OMIM 120220 CLINVAR