RGD:126922699 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:126922699 -  Homo sapiens

RGD ID: 126922699
RS ID: rs369863950
ClinVar ID: CV1051541
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARHGEF18  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 7,521,293
GRCh38 19 7,456,407
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001367824.1:c.1143+4T>A
NM_015318.4:c.1143+4T>A
NM_001130955.2:c.1455+4T>A
NM_001367823.1:c.2181+4T>A
More... 		06/02/2020 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ARHGEF18
Accession:XM_047438526
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XM_011527837
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XM_047438528
Location:INTRON

Gene Symbol:ARHGEF18
Accession:NM_015318
Location:INTRON

Gene Symbol:ARHGEF18
Accession:NM_001367824
Location:INTRON

Gene Symbol:ARHGEF18
Accession:NM_001130955
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XM_006722706
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XM_005272464
Location:INTRON

Gene Symbol:ARHGEF18
Accession:NM_001367823
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XM_011527836
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XM_011527839
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XM_011527841
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XM_047438527
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XR_007066706
Location:INTRON;NON-CODING

Gene Symbol:ARHGEF18
Accession:XR_007066705
Location:INTRON;NON-CODING

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001364976 CLINVAR
dbSNP (RS) rs369863950 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ARHGEF18 CLINVAR
OMIM 616432 CLINVAR