rs763133240 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 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
Advanced Search (OLGA)

Variant: rs763133240 -  Homo sapiens

RGD ID: 28901536
RS ID: rs763133240
ClinVar ID: CV883310
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALS2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 202,565,041
GRCh38 2 201,700,318
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_020919.4:c.*1533C>T
NG_012654.1:g.3377C>T
NG_008775.1:g.85855C>T
NC_000002.12:g.201700318G>A
More... 		01/12/2018 3 prime utr variant uncertain significance ALS, JUVENILE; ALS2-related condition; ALS2-Related Disorders; ALS2-Related Spectrum Disorders; Amyotrophic lateral sclerosis type 2
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV883310Humanamyotrophic lateral sclerosis type 2  IAGP 8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 2ClinVar 
CV883310HumanJuvenile Amyotrophic Lateral Sclerosis  IAGP 8554872ClinVar Annotator: match by term: ALS and JUVENILEClinVar 
Gene Symbol:ALS2
Accession:XM_006712654
Location:3UTRS;EXON

Gene Symbol:ALS2
Accession:XM_006712655
Location:3UTRS;EXON

Gene Symbol:ALS2
Accession:XM_017004572
Location:3UTRS;EXON

Gene Symbol:ALS2
Accession:XM_047445224
Location:3UTRS;EXON

Gene Symbol:ALS2
Accession:NM_001410975
Location:3UTRS;EXON

Gene Symbol:ALS2
Accession:NM_020919
Location:3UTRS;EXON

Gene Symbol:ALS2
Accession:NM_001135745
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445241
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445238
Location:INTRON

Gene Symbol:ALS2
Accession:XM_017004570
Location:INTRON

.


Database
Acc Id
Source(s)
ClinVar RCV001143215 CLINVAR
  RCV001143216 CLINVAR
dbSNP (RS) rs763133240 CLINVAR
MedGen C1859807 CLINVAR
  CN169291 CLINVAR
NCBI Gene ALS2 CLINVAR
OMIM 205100 CLINVAR
  606352 CLINVAR