RGD:11592035 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:11592035 -  Homo sapiens

RGD ID: 11592035
RS ID: rs140928773
ClinVar ID: CV298127
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: SEPSECS  
Reference Nucleotide: -
Variant Nucleotide: AAA
Position
Assembly Chr Position
GRCh37 4 25,125,316
GRCh38 4 25,123,694
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028222.1:g.41888_41889insTTT
NM_016955.4:c.*236_*237insTTT
NC_000004.12:g.25123696_25123697insAAA
NC_000004.11:g.25125318_25125319insAAA
More... 		06/14/2016 3 prime utr variant likely benign Non-syndromic pontocerebellar hypoplasia; none provided; Pontocerebellar hypoplasia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SEPSECS
Accession:NM_001410714
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:SEPSECS
Accession:XM_047415762
Location:3UTRS;EXON

Gene Symbol:SEPSECS
Accession:NM_016955
Location:3UTRS;EXON

Gene Symbol:SEPSECS
Accession:XM_011513846
Location:3UTRS;EXON

Gene Symbol:SEPSECS
Accession:XM_011513848
Location:3UTRS;EXON

Gene Symbol:SEPSECS
Accession:XM_011513847
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000334763 CLINVAR
  RCV001547375 CLINVAR
dbSNP (RS) rs140928773 CLINVAR
MedGen C1261175 CLINVAR
  CN517202 CLINVAR
NCBI Gene SEPSECS CLINVAR
OMIM 613009 CLINVAR
SNOMED CT 373666002 CLINVAR