RGD:28894349 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:28894349 -  Homo sapiens

RGD ID: 28894349
RS ID: rs749603596
ClinVar ID: CV876786
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COX10  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 14,110,367
GRCh38 17 14,207,050
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001303.4:c.1169C>T
NG_008034.1:g.142649C>T
NC_000017.11:g.14207050C>T
NC_000017.10:g.14110367C>T
More... 		04/01/2022 missense variant uncertain significance Complex 4 mitochondrial respiratory chain deficiency; Complex IV deficiency; COX deficiency; Cytochrome-c oxidase deficiency; Deficiency of mitochondrial respiratory chain complex4; Leigh Disease; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; Mitochondrial complex IV deficiency; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; Necrotizing encephalopathy infantile subacute of Leigh; none provided; Subacute necrotizing encephalopathy

Variant Details
Variant Transcripts
Gene Symbol:COX10
Accession:NM_001303
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 390
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASPHTLSSRLLTGCVGGSVWYLERRTIQDSPHKFLHLLRNVNKQWITFQHFSFLKRMYVTQLNRSHNQQVRPKPEPVA
SPFLEKTSSGQAKAEIYEMRPLSPPSLSLSRKPNEKELIELEPDSVIEDSIDVGKETKEEKRWKEMKLQVYDLPGILARL
SKIKLTALVVSTTAAGFALAPGPFDWPCFLLTSVGTGLASCAANSINQFFEVPFDSNMNRTKNRPLVRGQISPLLAVSFA
TCCAVPGVAILTLGVNPLTGALGLFNIFLYTCCYTPLKRISIANTWVGAVVGAIPPVMGWTAATGSLDAGAFLLGGILYS
WQFPHFNALSWGLREDYSRGGYCMMSVTHPGLCRRVALRHCLALLVLSAAAPVLDITTWTFPIMALPINVYISYLGFRFY
VDADRRSSRRLFFCSLWHLPLLLLLMLTCKRPSGGGDAGPPPS*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001122052 CLINVAR
  RCV001122053 CLINVAR
  RCV001593283 CLINVAR
  RCV002497532 CLINVAR
dbSNP (RS) rs749603596 CLINVAR
MedGen C0023264 CLINVAR
  C5435656 CLINVAR
  C5436682 CLINVAR
  CN517202 CLINVAR
NCBI Gene COX10 CLINVAR
OMIM 220110 CLINVAR
  256000 CLINVAR
  602125 CLINVAR
  619046 CLINVAR
SNOMED CT 29570005 CLINVAR
  67434000 CLINVAR