RGD:13792159 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:13792159 -  Homo sapiens

RGD ID: 13792159
RS ID: rs747150144
ClinVar ID: CV545997
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC37A4  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 118,898,327
GRCh38 11 119,027,617
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001164277.2:c.626+11A>T
NM_001164277.1:c.625+11A>T
LRG_187t1:c.625+11A>T
LRG_187:g.8289A>T
More... 		11/07/2023 intron variant likely benign Glycogen storage disease type 1B; GSD Ib
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC37A4
Accession:NM_001164279
Location:INTRON

Gene Symbol:SLC37A4
Accession:NM_001164277
Location:INTRON

Gene Symbol:SLC37A4
Accession:NM_001164278
Location:INTRON

Gene Symbol:SLC37A4
Accession:NM_001164280
Location:INTRON

Gene Symbol:SLC37A4
Accession:NM_001467
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000668359 CLINVAR
dbSNP (RS) rs747150144 CLINVAR
MedGen C0268146 CLINVAR
NCBI Gene SLC37A4 CLINVAR
OMIM 232220 CLINVAR
  602671 CLINVAR
SNOMED CT 30102006 CLINVAR