RGD:38483658 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:38483658 -  Homo sapiens

RGD ID: 38483658
RS ID: rs1254391875
ClinVar ID: CV939837
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGL  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 100,346,630
GRCh38 1 99,881,074
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000646.2:c.1852-2A>G
NM_000028.2:c.1900-2A>G
NM_000642.3:c.1900-2A>G
NM_000643.2:c.1900-2A>G
More... 		10/08/2019 splice acceptor variant pathogenic Amylo-1,6-glucosidase deficiency; Cori disease; Forbes disease; Glycogen debrancher deficiency; Glycogen storage disease type 3; Limit dextrinosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AGL
Accession:NM_000644
Location:INTRON

Gene Symbol:AGL
Accession:NM_000643
Location:INTRON

Gene Symbol:AGL
Accession:XM_005270557
Location:INTRON

Gene Symbol:AGL
Accession:NM_000642
Location:INTRON

Gene Symbol:AGL
Accession:NM_000646
Location:INTRON

Gene Symbol:AGL
Accession:NM_000028
Location:INTRON

Gene Symbol:AGL
Accession:XM_017000501
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:19299494   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001207730 CLINVAR
dbSNP (RS) rs1254391875 CLINVAR
MedGen C0017922 CLINVAR
NCBI Gene AGL CLINVAR
OMIM 232400 CLINVAR
  610860 CLINVAR
SNOMED CT 66937008 CLINVAR