RGD:13796197 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:13796197 -  Homo sapiens

RGD ID: 13796197
RS ID: rs1800171
ClinVar ID: CV551716
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 2,604,775
GRCh38 11 2,583,545
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000218.3:c.1032G>T
LRG_287p1:p.Ala344=
NC_000011.9:g.2604775G>T
NM_000218.2:c.1032G>T
More... 		10/05/2022 synonymous variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KCNQ1
Accession:NM_000218
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406836
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_181798
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406837
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406839
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406838
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:36197721  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000678813 CLINVAR
  RCV002298736 CLINVAR
dbSNP (RS) rs1800171 CLINVAR
MedGen C0023976 CLINVAR
  C4551647 CLINVAR
NCBI Gene KCNQ1 CLINVAR
OMIM 192500 CLINVAR
  607542 CLINVAR
SNOMED CT 9651007 CLINVAR