RGD:12912039 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:12912039 -  Homo sapiens

RGD ID: 12912039
RS ID: rs1114167441
ClinVar ID: CV417867
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NONO  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 70,518,358
GRCh38 X 71,298,508
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_046742.1:g.20317G>T
NC_000023.11:g.71298508G>T
NC_000023.10:g.70518358G>T
NP_001138880.1:p.Gly391Cys
More... 		06/08/2017 missense variant pathogenic Intellectual developmental disorder, X-linked syndromic 34; MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NONO
Accession:NM_001145408
Location:INTRON

Gene Symbol:NONO
Accession:NM_001145410
Location:INTRON

Gene Symbol:NONO
Accession:NM_007363
Location:INTRON

Gene Symbol:NONO
Accession:NM_001145409
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:27329731  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000490794 CLINVAR
dbSNP (RS) rs1114167441 CLINVAR
MedGen C4225417 CLINVAR
NCBI Gene NONO CLINVAR
OMIM 300084 CLINVAR
  300967 CLINVAR
OMIM Allele 300084.0004 CLINVAR