RGD:12895994 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:12895994 -  Homo sapiens

RGD ID: 12895994
RS ID: rs141922962
ClinVar ID: CV390463
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFV3  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 44,317,156
GRCh38 21 42,897,046
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021075.3:c.168A>C
NP_001001503.1:p.Lys56Asn
NG_042281.1:g.8779A>C
NC_000021.9:g.42897046A>C
More... 		03/29/2016 missense variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:NDUFV3
Accession:XM_011529586
Location:EXON

Gene Symbol:NDUFV3
Accession:XM_017028359
Location:EXON

Gene Symbol:NDUFV3
Accession:NM_001001503
Location:EXON

Gene Symbol:NDUFV3
Accession:NM_021075
Location:EXON

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000454733 CLINVAR
dbSNP (RS) rs141922962 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene NDUFV3 CLINVAR
OMIM 602184 CLINVAR