RGD:15115244 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:15115244 -  Homo sapiens

RGD ID: 15115244
RS ID: rs200227798
ClinVar ID: CV685236
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WASHC5  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 126,095,506
GRCh38 8 125,083,264
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330609.2:c.-258-6T>C
NM_014846.4:c.187-6T>C
NG_012636.1:g.13556T>C
NM_014846.3:c.187-6T>C
More... 		04/10/2018 intron variant likely benign 3C syndrome; Cranio-cerebello-cardiac dysplasia; Dandy-Walker like malformation with atrioventricular septal defect; Dandy-Walker-like malformation with ASD; Ritscher-Schinzel cranio-cerebello-cardiac syndrome; Ritscher-Schinzel syndrome; SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:WASHC5
Accession:NM_001330609
Location:5UTRS;INTRON

Gene Symbol:WASHC5
Accession:NM_014846
Location:INTRON

Gene Symbol:WASHC5
Accession:XM_047422502
Location:INTRON

Gene Symbol:WASHC5
Accession:XM_047422503
Location:INTRON

Gene Symbol:WASHC5
Accession:XM_011517409
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000860695 CLINVAR
dbSNP (RS) rs200227798 CLINVAR
MedGen C1863704 CLINVAR
NCBI Gene WASHC5 CLINVAR
OMIM 603563 CLINVAR
  610657 CLINVAR