RGD:10049447 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:10049447 -  Homo sapiens

RGD ID: 10049447
RS ID: rs794726915
ClinVar ID: CV190440
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GOSR2  LOC127887141  LRRC37A2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 45,000,590
GRCh38 17 46,923,224
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.46923224G>A
NC_000017.10:g.45000590G>A
NG_031806.2:g.5105G>A
NM_054022.4:c.29+3G>A
More... 		09/20/2014 5 prime utr variant|intron variant uncertain significance Familial progressive myoclonic epilepsy; Myoclonic Epilepsies, Progressive; Myoclonus epilepsy; none provided; Progressive myoclonus epilepsy
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GOSR2
Accession:NM_001321134
Location:5UTRS;EXON

Gene Symbol:GOSR2
Accession:XM_017025389
Location:5UTRS;EXON

Gene Symbol:GOSR2
Accession:XM_047437115
Location:5UTRS;EXON

Gene Symbol:GOSR2
Accession:NM_001363851
Location:5UTRS;EXON

Gene Symbol:GOSR2
Accession:XM_047437114
Location:5UTRS;EXON

Gene Symbol:GOSR2
Accession:XM_006722190
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524843
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_011525502
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_047437117
Location:INTRON

Gene Symbol:LRRC37A2
Accession:NM_001385803
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436146
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_047437116
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524846
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_017025386
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_017025387
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_017025392
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524850
Location:INTRON

Gene Symbol:GOSR2
Accession:NM_001321133
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436144
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436141
Location:INTRON

Gene Symbol:GOSR2
Accession:NM_004287
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_017025383
Location:INTRON

Gene Symbol:GOSR2
Accession:NM_001012511
Location:INTRON

Gene Symbol:GOSR2
Accession:NM_001353114
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436147
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_047437118
Location:INTRON

Gene Symbol:LRRC37A2
Accession:NM_001006607
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_011525501
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524848
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_017025378
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436145
Location:INTRON

Gene Symbol:GOSR2
Accession:NM_054022
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524842
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524849
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_024450773
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436143
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_047437113
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_047437112
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524841
Location:INTRON

Gene Symbol:GOSR2
Accession:NM_001330252
Location:INTRON

Gene Symbol:GOSR2
Accession:NM_001353116
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_047437120
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_011524844
Location:INTRON

Gene Symbol:GOSR2
Accession:XM_047437119
Location:INTRON

Gene Symbol:GOSR2
Accession:NM_001353115
Location:INTRON

Gene Symbol:LRRC37A2
Accession:XM_047436142
Location:INTRON

Gene Symbol:GOSR2
Accession:NR_148351
Location:INTRON;NON-CODING

Gene Symbol:GOSR2
Accession:XR_934616
Location:INTRON;NON-CODING

Gene Symbol:GOSR2
Accession:XR_007065553
Location:INTRON;NON-CODING

Gene Symbol:GOSR2
Accession:NR_148349
Location:INTRON;NON-CODING

Gene Symbol:GOSR2
Accession:NR_148350
Location:INTRON;NON-CODING

Gene Symbol:GOSR2
Accession:XR_007065552
Location:INTRON;NON-CODING

Gene Symbol:LRRC37A2
Accession:XR_007065300
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000173333 CLINVAR
  RCV001852109 CLINVAR
dbSNP (RS) rs794726915 CLINVAR
MedGen C0751778 CLINVAR
  CN517202 CLINVAR
NCBI Gene GOSR2 CLINVAR
  LRRC37A2 CLINVAR
OMIM 604027 CLINVAR
  616556 CLINVAR
SNOMED CT 267581004 CLINVAR