RGD:11653221 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:11653221 -  Homo sapiens

RGD ID: 11653221
RS ID: rs886054718
ClinVar ID: CV283436
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLF11  LOC128897170  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 10,183,740
GRCh38 2 10,043,613
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_017199.1:g.5059C>T
NC_000002.12:g.10043613C>T
NC_000002.11:g.10183740C>T
NM_003597.5:c.-104C>T
More... 		06/14/2016 2kb upstream variant|5 prime utr variant uncertain significance Diabetes mellitus MODY type 7; MODY KLF11 related; MODY type 7
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KLF11
Accession:NM_003597
Location:5UTRS;EXON

Gene Symbol:KLF11
Accession:NM_001177718
Location:INTRON

Gene Symbol:KLF11
Accession:NM_001177716
Location:INTRON

Gene Symbol:KLF11
Accession:XM_047446025
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000309523 CLINVAR
dbSNP (RS) rs886054718 CLINVAR
MedGen C1864839 CLINVAR
NCBI Gene KLF11 CLINVAR
  LOC128897170 CLINVAR
OMIM 603301 CLINVAR
  610508 CLINVAR