RGD:11627197 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:11627197 -  Homo sapiens

RGD ID: 11627197
RS ID: rs2228995
ClinVar ID: CV346775
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GH-LCR  SCN4A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 62,018,109
GRCh38 17 63,940,749
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
NM_000334.4:c.*22A>G
NG_011699.1:g.37170A>G
NC_000017.11:g.63940749T>C
NC_000017.10:g.62018109T>C
More... 		06/19/2018 3 prime utr variant benign adolescent|childhood 1-9 / 1 000 000 ADYNAMIA EPISODICA HEREDITARIA WITH OR WITHOUT MYOTONIA; Congenital myasthenic syndrome, acetazolamide-responsive; Eulenburg disease; Familial hyperkalemic periodic paralysis; Gamstorp disease; Gamstorp episodic adynamy; Myotonia congenita intermittens; Myotonia congenita, acetazolamide-responsive; Myotonia congenita, atypical; none provided; Paralysis periodica paramyotonica; Paramyotonia congenita; SODIUM CHANNEL MUSCLE DISEASE; Von Eulenburg paramyotonia congenita
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SCN4A
Accession:NM_000334
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000277184 CLINVAR
  RCV000325253 CLINVAR
  RCV000331191 CLINVAR
  RCV000369494 CLINVAR
  RCV000382661 CLINVAR
  RCV001613045 CLINVAR
dbSNP (RS) rs2228995 CLINVAR
MedGen C0221055 CLINVAR
  C0238357 CLINVAR
  C2750061 CLINVAR
  C2931826 CLINVAR
  C3280112 CLINVAR
  C3661900 CLINVAR
NCBI Gene 106128904 CLINVAR
  SCN4A CLINVAR
OMIM 168300 CLINVAR
  170500 CLINVAR
  603967 CLINVAR
  608390 CLINVAR
  613345 CLINVAR
  614198 CLINVAR
SNOMED CT 278513006 CLINVAR