rs72673121 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: rs72673121 -  Homo sapiens

RGD ID: 150338837
RS ID: rs72673121
ClinVar ID: CV1167086
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPT2  LOC129930561  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 53,662,823
GRCh38 1 53,197,151
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000098.3:c.152+56C>A
NM_001330589.2:c.152+56C>A
NG_008035.1:g.5723C>A
NC_000001.11:g.53197151C>A
More... 		07/01/2021 intron variant benign CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, HEPATOCARDIOMUSCULAR; Carnitine palmitoyltransferase II deficiency, infantile; Carnitine palmitoyltransferase II deficiency, lethal neonatal; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL; CPT II DEFICIENCY, HEPATIC; CPT II deficiency, infantile; CPT II DEFICIENCY, LETHAL NEONATAL; CPT2 DEFICIENCY, INFANTILE; CPT2 DEFICIENCY, LETHAL NEONATAL; none provided
GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST90266731 Urine X-24469 levels in chronic kidney disease 4,524 European ancestry individuals A 0.21 8E-14 13.096910013008056 Illumina [7723601] (imputed) 0.158 metabolite measurement (EFO:0004725)
 PMID:37277652
GCST90265508 Plasma methylsuccinoylcarnitine levels in chronic kidney disease 4,954 European ancestry individuals A 0.21 8E-34 33.096910013008056 Illumina [7723734] (imputed) 0.221 metabolite measurement (EFO:0004725)
 PMID:37277652

Variant Details
Variant Transcripts
Gene Symbol:CPT2
Accession:NM_001330589
Location:INTRON

Gene Symbol:CPT2
Accession:NM_000098
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001533750 CLINVAR
  RCV001533751 CLINVAR
  RCV001712980 CLINVAR
dbSNP (RS) rs72673121 CLINVAR
GWAS Catalog GCST90265508 GWAS Catalog
  GCST90266731 GWAS Catalog
MedGen C1833511 CLINVAR
  C1833518 CLINVAR
  C3661900 CLINVAR
NCBI Gene CPT2 CLINVAR
  LOC129930561 CLINVAR
OMIM 600649 CLINVAR
  600650 CLINVAR
  608836 CLINVAR