RGD:126734168 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:126734168 -  Homo sapiens

RGD ID: 126734168
RS ID: rs1907160050
ClinVar ID: CV1032969
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYBA  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 88,709,901
GRCh38 16 88,643,493
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.10:g.88643493G>C
NC_000016.9:g.88709901G>C
NP_000092.2:p.Gln150Glu
LRG_52:g.12557C>G
More... 		08/20/2020 missense variant uncertain significance CGD DUE TO DEFICIENCY OF THE ALPHA SUBUNIT OF CYTOCHROME b; CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-NEGATIVE; CYBA DEFICIENCY; GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYBA
Accession:XM_011522905
Location:3UTRS;EXON

Gene Symbol:CYBA
Accession:NM_000101
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 150
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWGQKYMTAVVKLF
GPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGIYLLAAVRGEQWTPIEPKPRERPQIGGTIKEPPSNPPPRPP
AEARKKPSEEEAAVAAGGPPGGPQVNPIPVTDEVV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001349897 CLINVAR
dbSNP (RS) rs1907160050 CLINVAR
MedGen C1856255 CLINVAR
NCBI Gene CYBA CLINVAR
OMIM 233690 CLINVAR
  608508 CLINVAR