RGD:38482444 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:38482444 -  Homo sapiens

RGD ID: 38482444
RS ID: rs1211592806
ClinVar ID: CV959993
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM216  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 61,165,244
GRCh38 11 61,397,772
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330285.2:c.47-2A>G
NM_016499.6:c.47-2A>G
LRG_698t1:c.230-2A>G
NM_001173991.3:c.230-2A>G
More... 		11/19/2019 splice acceptor variant likely pathogenic Cerebellooculorenal syndrome 2; Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Joubert-Boltshauser syndrome; Meckel syndrome, type 2; MECKEL-GRUBER SYNDROME, TYPE 2; MKS2-Related Meckel Syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM216
Accession:NM_001173990
Location:INTRON

Gene Symbol:TMEM216
Accession:NM_001173991
Location:INTRON

Gene Symbol:TMEM216
Accession:NM_016499
Location:INTRON

Gene Symbol:TMEM216
Accession:NM_001330285
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:20512146   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001235530 CLINVAR
  RCV002480768 CLINVAR
dbSNP (RS) rs1211592806 CLINVAR
MedGen C0431399 CLINVAR
  C1842577 CLINVAR
NCBI Gene TMEM216 CLINVAR
OMIM 213300 CLINVAR
  603194 CLINVAR
  608091 CLINVAR
  613277 CLINVAR
SNOMED CT 253175003 CLINVAR