RGD:11606212 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:11606212 -  Homo sapiens

RGD ID: 11606212
RS ID: rs924532099
ClinVar ID: CV319551
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOCK8  DOCK8-AS2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 465,066
GRCh38 9 465,066
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001190458.2:c.*847A>G
LRG_196t1:c.*847A>G
LRG_196:g.255202A>G
NG_017007.1:g.255202A>G
More... 		01/13/2018 3 prime utr variant uncertain significance HIES autosomal recessive; HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE; Hyper-IgE recurrent infection syndrome, autosomal recessive; HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS; Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DOCK8
Accession:XM_011518046
Location:3UTRS;EXON

Gene Symbol:DOCK8
Accession:XM_047423936
Location:3UTRS;EXON

Gene Symbol:DOCK8
Accession:XM_047423933
Location:3UTRS;EXON

Gene Symbol:DOCK8
Accession:XM_011518045
Location:3UTRS;EXON

Gene Symbol:DOCK8
Accession:NM_001190458
Location:3UTRS;EXON

Gene Symbol:DOCK8
Accession:NM_203447
Location:3UTRS;EXON

Gene Symbol:DOCK8
Accession:NM_001193536
Location:3UTRS;EXON

Gene Symbol:DOCK8
Accession:XM_047423929
Location:3UTRS;EXON

Gene Symbol:DOCK8
Accession:XM_017015173
Location:3UTRS;EXON

Gene Symbol:DOCK8-AS2
Accession:XR_002956871
Location:EXON;NON-CODING

Gene Symbol:DOCK8
Accession:XM_047423932
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423931
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423935
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423937
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423927
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423930
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423934
Location:INTRON

Gene Symbol:DOCK8
Accession:XM_047423928
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000328384 CLINVAR
dbSNP (RS) rs924532099 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR