RGD:13536447 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:13536447 -  Homo sapiens

RGD ID: 13536447
RS ID: rs141049438
ClinVar ID: CV508120
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UBA1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 47,062,226
GRCh38 X 47,202,827
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009161.1:g.17028G>A
NC_000023.11:g.47202827G>A
NC_000023.10:g.47062226G>A
NM_003334.4:c.1233+13G>A
More... 		11/14/2021 intron variant benign|likely benign AllHighlyPenetrant; AMC, distal, X-linked; Arthrogryposis multiplex congenita, distal, X-linked; ARTHROGRYPOSIS, X-LINKED, TYPE I; Spinal muscular atrophy, X-linked 2; Spinal Muscular Atrophy, X-Linked Infantile; SPINAL MUSCULAR ATROPHY, X-LINKED LETHAL INFANTILE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:UBA1
Accession:XM_047442423
Location:INTRON

Gene Symbol:UBA1
Accession:XM_017029778
Location:INTRON

Gene Symbol:UBA1
Accession:NM_003334
Location:INTRON

Gene Symbol:UBA1
Accession:XM_047442425
Location:INTRON

Gene Symbol:UBA1
Accession:XM_011543954
Location:INTRON

Gene Symbol:UBA1
Accession:XM_017029777
Location:INTRON

Gene Symbol:UBA1
Accession:XM_005272649
Location:INTRON

Gene Symbol:UBA1
Accession:XM_047442421
Location:INTRON

Gene Symbol:UBA1
Accession:NM_153280
Location:INTRON

Gene Symbol:UBA1
Accession:XM_047442422
Location:INTRON

Gene Symbol:UBA1
Accession:XM_017029780
Location:INTRON

Gene Symbol:UBA1
Accession:XM_047442424
Location:INTRON

Gene Symbol:UBA1
Accession:XM_047442420
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000609019 CLINVAR
  RCV002065407 CLINVAR
dbSNP (RS) rs141049438 CLINVAR
MedGen C1844934 CLINVAR
  CN169374 CLINVAR
NCBI Gene UBA1 CLINVAR
OMIM 301830 CLINVAR
  314370 CLINVAR