RGD:11634225 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:11634225 -  Homo sapiens

RGD ID: 11634225
RS ID: rs1057516112
ClinVar ID: CV353991
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 62,065,159
GRCh38 20 63,433,806
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_009004.2:g.43835A>G
NC_000020.11:g.63433806T>C
NC_000020.10:g.62065159T>C
NM_172107.2:c.1118+3A>G
More... 		04/01/2022 intron variant pathogenic|uncertain significance|not provided neonatal Benign Neonatal Epilepsy 1; Developmental and epileptic encephalopathy; Early infantile epileptic encephalopathy; KCNQ2-Related Benign Familial Neonatal Epilepsy; none provided; Ohtahara syndrome

Variant Details
Variant Transcripts
Gene Symbol:KCNQ2
Accession:NM_172109
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 374
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKRNAFYRKLQNF
LYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGR
LKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGF
LCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKV
QEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYRCRRRAPATKQLFHFLFSICS*

Gene Symbol:KCNQ2
Accession:NM_004518
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_011528811
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027845
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_047440144
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027841
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172107
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172106
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027843
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_001382235
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172108
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027844
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027842
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_047440145
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:23360469   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000678166 CLINVAR
  RCV002058836 CLINVAR
  RCV003588620 CLINVAR
dbSNP (RS) rs1057516112 CLINVAR
MedGen C0393706 CLINVAR
  C3149074 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNQ2 CLINVAR
OMIM 121200 CLINVAR
  602235 CLINVAR
SNOMED CT 230429005 CLINVAR