rs1770832882 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: rs1770832882 -  Homo sapiens

RGD ID: 38461709
RS ID: rs1770832882
ClinVar ID: CV919054
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: LOC127406595  MTO1  
Reference Nucleotide: GCAGCCACCGCCGCCGCTCGGT
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 6 74,171,729 - 74,171,751
GRCh38 6 73,462,006 - 73,462,028
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001123226.2:c.153_174del
NM_133645.3:c.153_174del
NM_012123.4:c.153_174del
NC_000006.11:g.74171730_74171751del
More... 		08/20/2019 frameshift variant likely pathogenic CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS; Combined oxidative phosphorylation deficiency 10
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV919054Humancombined oxidative phosphorylation deficiency 10  IAGP 8554872ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 10ClinVarPMID:25741868


.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV001197863 CLINVAR
dbSNP (RS) rs1770832882 CLINVAR
MedGen C4749921 CLINVAR
NCBI Gene MTO1 CLINVAR
OMIM 614667 CLINVAR
  614702 CLINVAR