RGD:8602896 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:8602896 -  Homo sapiens

RGD ID: 8602896
RS ID: rs4986958
ClinVar ID: CV45039
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFNGR2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 34,787,294
GRCh38 21 33,414,987
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_67t1:c.173C>G
LRG_67:g.34996C>G
NG_007570.2:g.34996C>G
NC_000021.9:g.33414987C>G
More... 		06/09/2021 missense|missense variant benign IFNGR2 DEFICIENCY; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IFNGR2
Accession:NM_005534
Location:EXON
Amino Acid Prediction: T to R (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPTLLWSLLLLLGVFAAAAAAPPDPLSQLPAPQHPKIRLYNAEQVLSWEPVALSNSRRPVVYQVQFKYTDSKWFTADIM
SIGVNCTQITATECDFTAASPSAGFPMDFNVTLRLRAELGALHSAWVTMPWFQHYRNVTVGPPENIEVTPGEGSLIIRFS
SPFDIADTSTAFFCYYVHYWEKGGIQQVKGPFRSNSISLDNLKPSRVYCLQVQAQLLWNKSNIFRVGHLSNISCYETMAD
ASTELQQVILISVGTFSLLSVLAGACFFLVLKYRGLIKYWFHTPPSIPLQIEEYLKDPTQPILEALDKDSSPKDDVWDSV
SIISFPEKEQEDVLQTL*

Gene Symbol:IFNGR2
Accession:NM_001329128
Location:EXON
Amino Acid Prediction: T to R (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPTLLWSLLLLLGVFAAAAAAPPAQLTLETYQEWCNDSAATHDPLSQLPAPQHPKIRLYNAEQVLSWEPVALSNSRRPV
VYQVQFKYTDSKWFTADIMSIGVNCTQITATECDFTAASPSAGFPMDFNVTLRLRAELGALHSAWVTMPWFQHYRNVTVG
PPENIEVTPGEGSLIIRFSSPFDIADTSTAFFCYYVHYWEKGGIQQVKGPFRSNSISLDNLKPSRVYCLQVQAQLLWNKS
NIFRVGHLSNISCYETMADASTELQQVILISVGTFSLLSVLAGACFFLVLKYRGLIKYWFHTPPSIPLQIEEYLKDPTQP
ILEALDKDSSPKDDVWDSVSIISFPEKEQEDVLQTL*
Variant Samples
Additional References at PubMed
PMID:16690980   PMID:16885196   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000030045 CLINVAR
  RCV000528693 CLINVAR
  RCV001610298 CLINVAR
dbSNP (RS) rs4986958 CLINVAR
MedGen C1112429 CLINVAR
  C3661900 CLINVAR
  C4013947 CLINVAR
NCBI Gene IFNGR2 CLINVAR
OMIM 147569 CLINVAR
  614889 CLINVAR