RGD:13625059 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:13625059 -  Homo sapiens

RGD ID: 13625059
RS ID: rs142509363
ClinVar ID: CV521760
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL12A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 75,815,018
GRCh38 6 75,105,302
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_042181.1:g.105606A>G
NC_000006.12:g.75105302T>C
NC_000006.11:g.75815018T>C
NM_080645.3:c.4687-10A>G
More... 		09/17/2020 intron variant benign|likely benign Bethlem myopathy 2; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL12A1
Accession:XM_047418186
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:COL12A1
Accession:XM_011535435
Location:INTRON

Gene Symbol:COL12A1
Accession:NM_001424114
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:COL12A1
Accession:NM_001424116
Location:INTRON

Gene Symbol:COL12A1
Accession:XM_047418184
Location:INTRON

Gene Symbol:COL12A1
Accession:NM_004370
Location:INTRON

Gene Symbol:COL12A1
Accession:NM_001424113
Location:INTRON

Gene Symbol:COL12A1
Accession:NM_080645
Location:INTRON

Gene Symbol:COL12A1
Accession:XM_017010252
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:COL12A1
Accession:NM_001424115
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000652944 CLINVAR
  RCV001548491 CLINVAR
dbSNP (RS) rs142509363 CLINVAR
MedGen C3661900 CLINVAR
  C4225314 CLINVAR
NCBI Gene COL12A1 CLINVAR
OMIM 120320 CLINVAR
  616470 CLINVAR
  616471 CLINVAR