RGD:156356934 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:156356934 -  Homo sapiens

RGD ID: 156356934
ClinVar ID: CV2020090
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: SERAC1  
Reference Nucleotide: -
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 158,540,103
GRCh38 6 158,119,071
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_032861.4:c.1266dup
NG_032889.1:g.54210dup
NC_000006.12:g.158119075dup
NC_000006.11:g.158540102_158540103insT
More... 		04/25/2022 frameshift variant pathogenic 3-METHYLGLUTACONIC ACIDURIA, TYPE VI; MEGDEL syndrome
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2020090Human3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  IAGP 8554872ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndromeClinVarPMID:22683713|PMID:28492532


.
PMID:22683713   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002720597 CLINVAR
MedGen C4040739 CLINVAR
NCBI Gene SERAC1 CLINVAR
OMIM 614725 CLINVAR
  614739 CLINVAR