rs537244282 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: rs537244282 -  Homo sapiens

RGD ID: 11606378
RS ID: rs537244282
ClinVar ID: CV306929
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLE1  LOC101929270  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 131,304,382
GRCh38 9 128,542,103
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_484t1:c.*933A>C
LRG_484:g.42412A>C
NG_012073.1:g.42412A>C
NC_000009.12:g.128542103A>C
More... 		01/13/2018 3 prime utr variant uncertain significance CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE; Lethal arthrogryposis with anterior horn cell disease; Lethal autosomal recessive syndrome of multiple congenital contractures; Multiple contracture syndrome, Finnish type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GLE1
Accession:XM_047423236
Location:3UTRS;EXON

Gene Symbol:GLE1
Accession:XM_047423235
Location:3UTRS;EXON

Gene Symbol:GLE1
Accession:XM_047423234
Location:3UTRS;EXON

Gene Symbol:GLE1
Accession:XM_006717060
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:GLE1
Accession:NM_001411013
Location:3UTRS;EXON

Gene Symbol:GLE1
Accession:XM_011518550
Location:3UTRS;EXON

Gene Symbol:GLE1
Accession:XM_011518549
Location:3UTRS;EXON

Gene Symbol:GLE1
Accession:XM_024447519
Location:3UTRS;EXON

Gene Symbol:GLE1
Accession:NM_001003722
Location:3UTRS;EXON

Gene Symbol:GLE1
Accession:NM_001499
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:LOC101929270
Accession:NR_188457
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000330659 CLINVAR
  RCV000387550 CLINVAR
dbSNP (RS) rs537244282 CLINVAR
MedGen C1854664 CLINVAR
  C5193016 CLINVAR
NCBI Gene GLE1 CLINVAR
  LOC101929270 CLINVAR
OMIM 253310 CLINVAR
  603371 CLINVAR
  611890 CLINVAR