RGD:10408144 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:10408144 -  Homo sapiens

RGD ID: 10408144
RS ID: rs863223330
ClinVar ID: CV187103
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127827684  SIX1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 61,115,347
GRCh38 14 60,648,629
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008231.1:g.5809G>C
NC_000014.9:g.60648629C>G
NC_000014.8:g.61115347C>G
NM_005982.4:c.560+1G>C
More... 		02/01/2015 splice donor variant likely pathogenic BO SYNDROME 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SIX1
Accession:XM_017021602
Location:INTRON

Gene Symbol:SIX1
Accession:NM_005982
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000201277 CLINVAR
dbSNP (RS) rs863223330 CLINVAR
MedGen C1842124 CLINVAR
NCBI Gene SIX1 CLINVAR
OMIM 601205 CLINVAR
  608389 CLINVAR