rs1691277696 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: rs1691277696 -  Homo sapiens

RGD ID: 151868730
RS ID: rs1691277696
ClinVar ID: CV1444825
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALS2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 202,592,412
GRCh38 2 201,727,689
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_654t1:c.2912+16C>G
NM_020919.4:c.2912+16C>G
LRG_654:g.58484C>G
NG_008775.1:g.58484C>G
More... 		08/22/2023 intron variant likely benign Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis; Spastic paralysis, infantile onset ascending
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1444825HumanHereditary Spastic Paralysis, Infantile Onset Ascending  IAGP 8554872ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysisClinVarPMID:28492532
Gene Symbol:ALS2
Accession:XM_047445238
Location:INTRON

Gene Symbol:ALS2
Accession:XM_017004572
Location:INTRON

Gene Symbol:ALS2
Accession:NM_001410975
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445224
Location:INTRON

Gene Symbol:ALS2
Accession:XM_006712654
Location:INTRON

Gene Symbol:ALS2
Accession:NM_020919
Location:INTRON

Gene Symbol:ALS2
Accession:NM_001135745
Location:INTRON

Gene Symbol:ALS2
Accession:XM_006712655
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445241
Location:INTRON

Gene Symbol:ALS2
Accession:XM_017004570
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV001939505 CLINVAR
dbSNP (RS) rs1691277696 CLINVAR
MedGen C2931441 CLINVAR
NCBI Gene ALS2 CLINVAR
OMIM 606352 CLINVAR
  607225 CLINVAR