RGD:14703744 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:14703744 -  Homo sapiens

RGD ID: 14703744
RS ID: rs1580273474
ClinVar ID: CV651335
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCCC2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 70,892,192
GRCh38 5 71,596,365
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363147.1:c.281+1G>T
NM_022132.5:c.281+1G>T
NC_000005.10:g.71596365G>T
NM_022132.4:c.281+1G>T
More... 		10/16/2018 splice donor variant likely pathogenic 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency; 3 alpha methylcrotonylglycinuria 2; MCC 2 deficiency; Methylcrotonylglycinuria type 2; METHYLCROTONYLGLYCINURIA, TYPE II
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MCCC2
Accession:NM_022132
Location:INTRON

Gene Symbol:MCCC2
Accession:NM_001363147
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_047417468
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_047417469
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_017009688
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_047417470
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_011543529
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000794997 CLINVAR
dbSNP (RS) rs1580273474 CLINVAR
MedGen C1859499 CLINVAR
NCBI Gene MCCC2 CLINVAR
OMIM 210210 CLINVAR
  609014 CLINVAR