rs755223903 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: rs755223903 -  Homo sapiens

RGD ID: 26920832
RS ID: rs755223903
ClinVar ID: CV852325
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CERS1  GDF1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 18,991,247
GRCh38 19 18,880,438
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001492.6:c.-732-3C>T
NM_021267.5:c.591-3C>T
NM_198207.3:c.591-3C>T
NG_012070.1:g.20707C>T
More... 		08/24/2021 intron variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV852325Humanprogressive myoclonus epilepsy 8  IAGP 8554872ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8ClinVarPMID:17576681 more ...
Gene Symbol:GDF1
Accession:NM_001387438
Location:5UTRS;INTRON

Gene Symbol:GDF1
Accession:NM_001492
Location:5UTRS;INTRON

Gene Symbol:CERS1
Accession:NM_001387444
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387441
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387439
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387443
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387442
Location:INTRON

Gene Symbol:CERS1
Accession:NM_021267
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387440
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387445
Location:INTRON

Gene Symbol:CERS1
Accession:NM_198207
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001290265
Location:INTRON

.
PMID:9536098   PMID:17576681   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV001060385 CLINVAR
dbSNP (RS) rs755223903 CLINVAR
MedGen C5190825 CLINVAR
NCBI Gene CERS1 CLINVAR
  GDF1 CLINVAR
OMIM 602880 CLINVAR
  606919 CLINVAR
  616230 CLINVAR