rs181698279 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: rs181698279 -  Homo sapiens

RGD ID: 12840161
RS ID: rs181698279
ClinVar ID: CV366422
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A3  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 238,263,593
GRCh38 2 237,354,950
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_473t1:c.6592-16A>T
LRG_473:g.64258A>T
NG_008676.1:g.64258A>T
NC_000002.12:g.237354950T>A
More... 		10/21/2021 intron variant benign AllHighlyPenetrant; Bethlem myopathy 1; Dystonia 27; Late onset scleroatonic familial myopathy (subtype); Myopathy, benign congenital, with contractures; none provided; Ullrich congenital muscular dystrophy 1; Ullrich congenital muscular dystrophy 1A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL6A3
Accession:NM_057166
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057164
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057167
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057165
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_004369
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000430163 CLINVAR
  RCV002062783 CLINVAR
  RCV002502549 CLINVAR
  RCV004708872 CLINVAR
dbSNP (RS) rs181698279 CLINVAR
MedGen C3661900 CLINVAR
  CN029274 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL6A3 CLINVAR
OMIM 120250 CLINVAR
  158810 CLINVAR
  254090 CLINVAR
  616411 CLINVAR