RGD:12839448 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:12839448 -  Homo sapiens

RGD ID: 12839448
RS ID: rs200901459
ClinVar ID: CV367226
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN10A  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 38,835,509
GRCh38 3 38,794,018
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_031891.2:g.4993A>T
NC_000003.12:g.38794018T>A
NC_000003.11:g.38835509T>A
NM_006514.2:c.-8A>T
More... 		11/14/2023 5 prime utr variant likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:SCN10A
Accession:NM_006514
Location:5UTRS;EXON

Gene Symbol:SCN10A
Accession:NM_001293306
Location:INTRON

Gene Symbol:SCN10A
Accession:XM_011533994
Location:INTRON

Gene Symbol:SCN10A
Accession:XM_011533993
Location:INTRON

Gene Symbol:SCN10A
Accession:XM_005265371
Location:INTRON

Gene Symbol:SCN10A
Accession:NM_001293307
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000428825 CLINVAR
  RCV003431013 CLINVAR
dbSNP (RS) rs200901459 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SCN10A CLINVAR
OMIM 604427 CLINVAR