RGD:28869935 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:28869935 -  Homo sapiens

RGD ID: 28869935
RS ID: rs150777320
ClinVar ID: CV898804
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF11B  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 119,945,466
GRCh38 8 118,933,227
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012202.1:g.23918C>A
NC_000008.11:g.118933227G>T
NC_000008.10:g.119945466G>T
NM_002546.3:c.104C>A
More... 		01/15/2018 missense variant uncertain significance Hyperostosis corticalis deformans juvenilis; Hyperphosphatasemia, chronic congenital idiopathic; Hyperphosphatasia, familial idiopathic; none provided; Osteoectasia familial; Paget disease of bone 5; PAGET DISEASE OF BONE 5, JUVENILE-ONSET
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TNFRSF11B
Accession:NM_002546
Location:EXON
Amino Acid Prediction: T to N (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNNLLCCALVFLDISIKWTTQETFPPKYLHYDEENSHQLLCDKCPPGTYLKQHCTAKWKTVCAPCPDHYYTDSWHTSDEC
LYCSPVCKELQYVKQECNRTHNRVCECKEGRYLEIEFCLKHRSCPPGFGVVQAGTPERNTVCKRCPDGFFSNETSSKAPC
RKHTNCSVFGLLLTQKGNATHDNICSGNSESTQKCGIDVTLCEEAFFRFAVPTKFTPNWLSVLVDNLPGTKVNAESVERI
KRQHSSQEQTFQLLKLWKHQNKDQDIVKKIIQDIDLCENSVQRHIGHANLTFEQLRSLMESLPGKKVGAEDIEKTIKACK
PSDQILKLLSLWRIKNGDQDTLKGLMHALKHSKTYHFPKTVTQSLKKTIRFLHSFTMYKLYQKLFLEMIGNQVQSVKISC
L*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001163314 CLINVAR
  RCV001882519 CLINVAR
  RCV002559563 CLINVAR
dbSNP (RS) rs150777320 CLINVAR
MedGen C0268414 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene TNFRSF11B CLINVAR
OMIM 239000 CLINVAR
  602643 CLINVAR
SNOMED CT 9723006 CLINVAR