RGD:11349819 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:11349819 -  Homo sapiens

RGD ID: 11349819
RS ID: rs199770031
ClinVar ID: CV241791
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AKT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 105,239,435
GRCh38 14 104,773,098
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_721t2:c.958-6G>A
NM_005163.2:c.958-6G>A
LRG_721:g.27647G>A
NG_012188.1:g.27647G>A
More... 		11/16/2020 intron variant benign all ages 1-9 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AKT1
Accession:XM_047431075
Location:INTRON

Gene Symbol:AKT1
Accession:XM_047431069
Location:INTRON

Gene Symbol:AKT1
Accession:XM_047431072
Location:INTRON

Gene Symbol:AKT1
Accession:NM_001014431
Location:INTRON

Gene Symbol:AKT1
Accession:NM_005163
Location:INTRON

Gene Symbol:AKT1
Accession:XM_047431074
Location:INTRON

Gene Symbol:AKT1
Accession:XM_047431073
Location:INTRON

Gene Symbol:AKT1
Accession:NM_001382431
Location:INTRON

Gene Symbol:AKT1
Accession:XM_047431071
Location:INTRON

Gene Symbol:AKT1
Accession:NM_001382430
Location:INTRON

Gene Symbol:AKT1
Accession:NM_001382432
Location:INTRON

Gene Symbol:AKT1
Accession:NM_001014432
Location:INTRON

Gene Symbol:AKT1
Accession:NM_001382433
Location:INTRON

Gene Symbol:AKT1
Accession:XM_047431070
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000232103 CLINVAR
dbSNP (RS) rs199770031 CLINVAR
MedGen C3554519 CLINVAR
NCBI Gene AKT1 CLINVAR
OMIM 164730 CLINVAR
  615109 CLINVAR