RGD:156378120 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: RGD:156378120 -  Homo sapiens

RGD ID: 156378120
ClinVar ID: CV1876632
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFAF5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 13,782,328
GRCh38 20 13,801,682
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001352406.2:c.155T>C
NM_001352407.2:c.155T>C
NM_001352403.2:c.245T>C
NM_001039375.3:c.632T>C
More... 		09/24/2021 missense variant uncertain significance none provided
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1876632Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:28492532
Gene Symbol:NDUFAF5
Accession:NM_001352407
Location:EXON

Gene Symbol:NDUFAF5
Accession:XM_011529342
Location:EXON

Gene Symbol:NDUFAF5
Accession:XM_006723624
Location:EXON

Gene Symbol:NDUFAF5
Accession:NM_001039375
Location:EXON

Gene Symbol:NDUFAF5
Accession:XM_047440471
Location:EXON

Gene Symbol:NDUFAF5
Accession:NM_001352406
Location:EXON

Gene Symbol:NDUFAF5
Accession:XM_047440472
Location:EXON

Gene Symbol:NDUFAF5
Accession:NM_001352403
Location:EXON

Gene Symbol:NDUFAF5
Accession:NM_001352408
Location:EXON

Gene Symbol:NDUFAF5
Accession:NM_024120
Location:EXON

Gene Symbol:NDUFAF5
Accession:XM_047440473
Location:EXON

Gene Symbol:NDUFAF5
Accession:XM_047440470
Location:EXON

Gene Symbol:NDUFAF5
Accession:XM_047440469
Location:EXON

Gene Symbol:NDUFAF5
Accession:XR_937140
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147978
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147983
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147979
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_029377
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147981
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147980
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147982
Location:EXON;NON-CODING

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003066917 CLINVAR
  RCV003066918 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene NDUFAF5 CLINVAR
OMIM 612360 CLINVAR