RGD:15102771 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:15102771 -  Homo sapiens

RGD ID: 15102771
RS ID: rs750993796
ClinVar ID: CV787710
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127821576  PC  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 66,618,398
GRCh38 11 66,850,927
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000920.4:c.2224-4C>T
NM_001040716.2:c.2224-4C>T
NM_022172.3:c.2224-4C>T
NG_008319.1:g.112450C>T
More... 		10/19/2018 intron variant likely benign Ataxia with lactic acidosis 2; ATAXIA WITH LACTIC ACIDOSIS II; Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency; Leigh syndrome due to pyruvate carboxylase deficiency; PC deficiency; Pyruvate Carboxylase Deficiency Disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PC
Accession:XM_011545086
Location:INTRON

Gene Symbol:PC
Accession:XM_017017868
Location:INTRON

Gene Symbol:PC
Accession:XM_047427058
Location:INTRON

Gene Symbol:PC
Accession:XM_017017871
Location:INTRON

Gene Symbol:PC
Accession:XM_005274031
Location:INTRON

Gene Symbol:PC
Accession:XM_017017872
Location:INTRON

Gene Symbol:PC
Accession:XM_005274032
Location:INTRON

Gene Symbol:PC
Accession:XM_011545087
Location:INTRON

Gene Symbol:PC
Accession:NM_001040716
Location:INTRON

Gene Symbol:PC
Accession:NM_022172
Location:INTRON

Gene Symbol:PC
Accession:XM_017017869
Location:INTRON

Gene Symbol:PC
Accession:XM_006718579
Location:INTRON

Gene Symbol:PC
Accession:XM_006718578
Location:INTRON

Gene Symbol:PC
Accession:XM_017017870
Location:INTRON

Gene Symbol:PC
Accession:NM_000920
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000975875 CLINVAR
dbSNP (RS) rs750993796 CLINVAR
MedGen C0034341 CLINVAR
NCBI Gene PC CLINVAR
OMIM 266150 CLINVAR
  608786 CLINVAR
SNOMED CT 87694001 CLINVAR