RGD:8643713 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:8643713 -  Homo sapiens

RGD ID: 8643713
RS ID: rs72554348
ClinVar ID: CV103054
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OTC  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 38,229,135
GRCh38 X 38,369,882
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000023.10:g.38229135G>C
NG_008471.1:g.22400G>C
NC_000023.11:g.38369882G>C
LRG_846:g.22400G>C
More... 		05/28/2019 intron|intron variant pathogenic|benign|likely benign|conflicting interpretations of pathogenicity all ages 1-9 / 100 000 AllHighlyPenetrant; none provided; Ornithine Carbamoyltransferase Deficiency Disease; Ornithine transcarbamylase deficiency; ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OTC
Accession:NM_000531
Location:INTRON

Gene Symbol:OTC
Accession:NM_001407092
Location:INTRON

Gene Symbol:OTC
Accession:XM_017029556
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16786505   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000083395 CLINVAR
  RCV000375335 CLINVAR
  RCV000378189 CLINVAR
  RCV002313837 CLINVAR
  RCV003925087 CLINVAR
dbSNP (RS) rs72554348 CLINVAR
MedGen C0268542 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene OTC CLINVAR
OMIM 300461 CLINVAR
  311250 CLINVAR
SNOMED CT 80908008 CLINVAR