RGD:8599936 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:8599936 -  Homo sapiens

RGD ID: 8599936
RS ID: rs121912440
ClinVar ID: CV29796
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOD1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 33,039,650
GRCh38 21 31,667,337
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
NG_008689.1:g.12716C>G
NC_000021.9:g.31667337C>G
NC_000021.8:g.33039650C>G
NP_000445.1:p.Leu107Val
More... 		04/02/2018 missense|missense variant pathogenic adulthood 1-9 / 100 000 AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SOD1
Accession:NM_000454
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATKAVCVLKGDGPVQGIINFEQKESNGPVKVWGSIKGLTEGLHGFHVHEFGDNTAGCTSAGPHFNPLSRKHGGPKDEER
HVGDLGNVTADKDGVADVSIEDSVISVSGDHCIIGRTLVVHEKADDLGKGGNEESTKTGNAGSRLACGVIGIAQ*
Variant Samples
Additional References at PubMed
PMID:7655471   PMID:7911198   PMID:8351519   PMID:8446170   PMID:9029070   PMID:20184893   PMID:20404910   PMID:22647583   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000015879 CLINVAR
  RCV003390685 CLINVAR
dbSNP (RS) rs121912440 CLINVAR
MedGen C1862939 CLINVAR
NCBI Gene SOD1 CLINVAR
OMIM 105400 CLINVAR
  147450 CLINVAR
OMIM Allele 147450.0010 CLINVAR