RGD:13613439 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:13613439 -  Homo sapiens

RGD ID: 13613439
RS ID: rs1026785989
ClinVar ID: CV516287
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGL  LOC124904230  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 100,382,297
GRCh38 1 99,916,741
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012865.1:g.71658C>G
NC_000001.11:g.99916741C>G
NC_000001.10:g.100382297C>G
NM_000646.2:c.4433+10C>G
More... 		01/14/2019 intron variant likely benign 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_000642
Location:INTRON

Gene Symbol:AGL
Accession:NM_000028
Location:INTRON

Gene Symbol:AGL
Accession:XM_017000501
Location:INTRON

Gene Symbol:AGL
Accession:NM_000644
Location:INTRON

Gene Symbol:AGL
Accession:NM_000643
Location:INTRON

Gene Symbol:AGL
Accession:NM_000646
Location:INTRON

Gene Symbol:AGL
Accession:XM_005270557
Location:INTRON

Gene Symbol:LOC124904230
Accession:XR_007066247
Location:INTRON;NON-CODING

Gene Symbol:LOC124904230
Accession:XR_007066245
Location:INTRON;NON-CODING

Gene Symbol:LOC124904230
Accession:XR_007066246
Location:INTRON;NON-CODING

Gene Symbol:LOC124904230
Accession:XR_007066251
Location:INTRON;NON-CODING

Gene Symbol:LOC124904230
Accession:XR_007066249
Location:INTRON;NON-CODING

Gene Symbol:LOC124904230
Accession:XR_007066250
Location:INTRON;NON-CODING

Gene Symbol:LOC124904230
Accession:XR_007066243
Location:INTRON;NON-CODING

Gene Symbol:LOC124904230
Accession:XR_007066244
Location:INTRON;NON-CODING

Gene Symbol:LOC124904230
Accession:XR_007066248
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000631171 CLINVAR
dbSNP (RS) rs1026785989 CLINVAR
MedGen C0017922 CLINVAR
NCBI Gene AGL CLINVAR
OMIM 232400 CLINVAR
  610860 CLINVAR
SNOMED CT 66937008 CLINVAR