RGD:28879177 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:28879177 -  Homo sapiens

RGD ID: 28879177
RS ID: rs768206672
ClinVar ID: CV862037
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VANGL1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 116,234,801
GRCh38 1 115,692,180
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172412.2:c.*801A>C
NC_000001.10:g.116234801A>C
NM_138959.2:c.*801A>C
NC_000001.11:g.115692180A>C
More... 		01/12/2018 3 prime utr variant uncertain significance Neural tube defects
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:VANGL1
Accession:NM_138959
Location:3UTRS;EXON

Gene Symbol:VANGL1
Accession:NM_001172411
Location:3UTRS;EXON

Gene Symbol:VANGL1
Accession:NM_001172412
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001096140 CLINVAR
  RCV001101566 CLINVAR
dbSNP (RS) rs768206672 CLINVAR
MedGen C0027794 CLINVAR
  C1838568 CLINVAR
NCBI Gene VANGL1 CLINVAR
OMIM 182940 CLINVAR
  600145 CLINVAR
  610132 CLINVAR
SNOMED CT 253098009 CLINVAR