RGD:10408808 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:10408808 -  Homo sapiens

RGD ID: 10408808
RS ID: rs863224816
ClinVar ID: CV212336
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN5A  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 38,674,805
GRCh38 3 38,633,314
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001160160.2:c.-7T>G
NM_001354701.2:c.-7T>G
LRG_289t1:c.-7T>G
LRG_289:g.21359T>G
More... 		03/29/2015 5 prime utr variant uncertain significance Sudden unexpected nocturnal death syndrome; Sudden Unexplained Death Syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SCN5A
Accession:XM_011533991
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_001160161
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_001160160
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_001407187
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_000335
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_001099405
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_198056
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_001407185
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_001354701
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_001099404
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_001407186
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NR_176299
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000199483 CLINVAR
dbSNP (RS) rs863224816 CLINVAR
MedGen C1142166 CLINVAR
NCBI Gene SCN5A CLINVAR
OMIM 600163 CLINVAR
  601144 CLINVAR
SNOMED CT 418818005 CLINVAR