RGD:14393664 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:14393664 -  Homo sapiens

RGD ID: 14393664
RS ID: rs1348966186
ClinVar ID: CV610157
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSS  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 33,533,901
GRCh38 20 34,946,098
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000020.10:g.33533901C>A
NP_000169.1:p.Val44Leu
LRG_1168t1:c.130G>T
NM_000178.4:c.130G>T
More... 		05/17/2017 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GSS
Accession:NM_001322495
Location:INTRON

Gene Symbol:GSS
Accession:NM_001322494
Location:INTRON

Gene Symbol:GSS
Accession:NM_000178
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001811461 CLINVAR
  RCV003243290 CLINVAR
dbSNP (RS) rs1348966186 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene GSS CLINVAR
OMIM 601002 CLINVAR