RGD:28894206 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:28894206 -  Homo sapiens

RGD ID: 28894206
RS ID: rs74540213
ClinVar ID: CV884282
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFA10  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 240,898,024
GRCh38 2 239,958,607
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_031855.2:g.71796C>T
NC_000002.12:g.239958607G>A
NC_000002.11:g.240898024G>A
NM_001322020.2:c.*2516C>T
More... 		01/13/2018 3 prime utr variant benign|likely benign Leigh Disease; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF; NADH-COENZYME Q REDUCTASE DEFICIENCY; Necrotizing encephalopathy infantile subacute of Leigh; Subacute necrotizing encephalopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NDUFA10
Accession:NM_004544
Location:3UTRS;EXON

Gene Symbol:NDUFA10
Accession:NM_001322020
Location:3UTRS;EXON

Gene Symbol:NDUFA10
Accession:NR_136156
Location:EXON;NON-CODING

Gene Symbol:NDUFA10
Accession:NR_136155
Location:EXON;NON-CODING

Gene Symbol:NDUFA10
Accession:NR_136157
Location:EXON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:NDUFA10
Accession:NM_001322019
Location:INTRON

Gene Symbol:NDUFA10
Accession:NM_001410987
Location:INTRON

Gene Symbol:NDUFA10
Accession:XM_047444487
Location:INTRON

Gene Symbol:NDUFA10
Accession:NR_136158
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001140420 CLINVAR
  RCV001140421 CLINVAR
dbSNP (RS) rs74540213 CLINVAR
MedGen C0023264 CLINVAR
  CN257533 CLINVAR
NCBI Gene NDUFA10 CLINVAR
OMIM 252010 CLINVAR
  256000 CLINVAR
  603835 CLINVAR
SNOMED CT 29570005 CLINVAR