rs530679736 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: rs530679736 -  Homo sapiens

RGD ID: 151860337
RS ID: rs530679736
ClinVar ID: CV1385953
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC8  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 60,217,982
GRCh38 5 60,922,155
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001007233.3:c.-1C>A
NM_001290285.2:c.-204C>A
NM_000082.4:c.174C>A
NM_001007234.3:c.174C>A
More... 		09/03/2023 5 prime utr variant pathogenic|likely pathogenic ERCC8-related condition; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ERCC8
Accession:NM_001290285
Location:5UTRS;INTRON

Gene Symbol:ERCC8
Accession:NM_001007233
Location:5UTRS;INTRON

Gene Symbol:ERCC8
Accession:NM_001007234
Location:INTRON

Gene Symbol:ERCC8
Accession:NM_000082
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:29572252  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001905194 CLINVAR
  RCV003394304 CLINVAR
dbSNP (RS) rs530679736 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ERCC8 CLINVAR
OMIM 609412 CLINVAR