RGD:11601955 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:11601955 -  Homo sapiens

RGD ID: 11601955
RS ID: rs560947786
ClinVar ID: CV309743
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OPTN  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 13,180,151
GRCh38 10 13,138,151
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001008211.1:c.*1285T>C
NM_021980.4:c.*1285T>C
NG_012876.1:g.43070T>C
NC_000010.11:g.13138151T>C
More... 		01/12/2018 3 prime utr variant likely benign|uncertain significance AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:OPTN
Accession:NM_001008211
Location:3UTRS;EXON

Gene Symbol:OPTN
Accession:NM_001008212
Location:3UTRS;EXON

Gene Symbol:OPTN
Accession:NM_021980
Location:3UTRS;EXON

Gene Symbol:OPTN
Accession:NM_001008213
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000286633 CLINVAR
  RCV000322973 CLINVAR
dbSNP (RS) rs560947786 CLINVAR
MedGen C0339573 CLINVAR
  C3150692 CLINVAR
NCBI Gene OPTN CLINVAR
OMIM 137760 CLINVAR
  602432 CLINVAR
  613435 CLINVAR
SNOMED CT 77075001 CLINVAR