RGD:11609613 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:11609613 -  Homo sapiens

RGD ID: 11609613
RS ID: rs2231677
ClinVar ID: CV323610
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COX15  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 101,491,832
GRCh38 10 99,732,075
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_406:g.5592A>G
NG_008986.1:g.5592A>G
NC_000010.11:g.99732075T>C
NC_000010.10:g.101491832T>C
More... 		01/13/2018 5 prime utr variant uncertain significance Leigh Disease; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; Necrotizing encephalopathy infantile subacute of Leigh; Subacute necrotizing encephalopathy
Disease Annotations     Click to see Annotation Detail View
Leigh disease  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:COX15
Accession:NM_078470
Location:5UTRS;EXON

Gene Symbol:COX15
Accession:NM_001372024
Location:5UTRS;EXON

Gene Symbol:COX15
Accession:NM_001372025
Location:5UTRS;EXON

Gene Symbol:COX15
Accession:NM_004376
Location:5UTRS;EXON

Gene Symbol:COX15
Accession:NM_001372027
Location:5UTRS;EXON

Gene Symbol:COX15
Accession:NM_001320975
Location:5UTRS;EXON

Gene Symbol:COX15
Accession:NM_001372028
Location:5UTRS;EXON

Gene Symbol:COX15
Accession:NM_001372026
Location:5UTRS;EXON

Gene Symbol:COX15
Accession:NM_001320974
Location:5UTRS;EXON

Gene Symbol:COX15
Accession:NM_001320976
Location:5UTRS;EXON

Gene Symbol:COX15
Accession:XM_006717634
Location:5UTRS;EXON

Gene Symbol:COX15
Accession:NR_164009
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000370770 CLINVAR
dbSNP (RS) rs2231677 CLINVAR
MedGen C0023264 CLINVAR
NCBI Gene COX15 CLINVAR
OMIM 256000 CLINVAR
  603646 CLINVAR
SNOMED CT 29570005 CLINVAR