RGD:12836538 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:12836538 -  Homo sapiens

RGD ID: 12836538
RS ID: rs377517686
ClinVar ID: CV377222
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TYK2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 10,476,181
GRCh38 19 10,365,505
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003331.5:c.1011+12G>A
LRG_121t1:c.1011+12G>A
LRG_121:g.20068G>A
NG_007872.1:g.20068G>A
More... 		01/13/2018 intron variant likely benign|uncertain significance AllHighlyPenetrant; HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE; HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE; Susceptibility to infection due to TYK2 deficiency; TYK2 DEFICIENCY; Tyrosine kinase 2 deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TYK2
Accession:XM_047439307
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385200
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385198
Location:INTRON

Gene Symbol:TYK2
Accession:XM_047439306
Location:INTRON

Gene Symbol:TYK2
Accession:XM_011528249
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385201
Location:INTRON

Gene Symbol:TYK2
Accession:XM_047439305
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385207
Location:INTRON

Gene Symbol:TYK2
Accession:XM_047439304
Location:INTRON

Gene Symbol:TYK2
Accession:NM_003331
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385205
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385202
Location:INTRON

Gene Symbol:TYK2
Accession:XM_011528247
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385197
Location:INTRON

Gene Symbol:TYK2
Accession:XM_011528246
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385203
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385199
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001406461
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385206
Location:INTRON

Gene Symbol:TYK2
Accession:NM_001385204
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000423566 CLINVAR
  RCV001124700 CLINVAR
dbSNP (RS) rs377517686 CLINVAR
MedGen C1969086 CLINVAR
  CN169374 CLINVAR
NCBI Gene TYK2 CLINVAR
OMIM 176941 CLINVAR
  611521 CLINVAR