RGD:11652976 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:11652976 -  Homo sapiens

RGD ID: 11652976
RS ID: rs886063199
ClinVar ID: CV310152
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: GDF6  
Reference Nucleotide: -
Variant Nucleotide: AAAG
Position
Assembly Chr Position
GRCh37 8 97,156,470
GRCh38 8 96,144,242
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008981.1:g.21550_21551insCTTT
NM_001001557.2:c.*320_*321insCTTT
NC_000008.11:g.96144243_96144244insAAGA
NM_001001557.4:c.*320_*321insCTTT
More... 		06/14/2016 3 prime utr variant uncertain significance Cervical C2/C3 vertebral fusion; Cervical vertebral fusion autosomal dominant; Cervical vertebral fusion autosomal recessive; Klippel Feil syndrome autosomal dominant
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GDF6
Accession:NM_001001557
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000308068 CLINVAR
dbSNP (RS) rs886063199 CLINVAR
MedGen C0022738 CLINVAR
NCBI Gene GDF6 CLINVAR
OMIM 118100 CLINVAR
  601147 CLINVAR