RGD:11552452 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:11552452 -  Homo sapiens

RGD ID: 11552452
RS ID: rs12850852
ClinVar ID: CV257867
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MED12  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 70,339,498
GRCh38 X 71,119,648
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012808.1:g.6093C>T
NC_000023.11:g.71119648C>T
NC_000023.10:g.70339498C>T
NM_005120.2:c.205-38C>T
More... 		06/14/2018 intron variant benign|likely benign AllHighlyPenetrant; BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE; Keller syndrome; Lujan Fryns syndrome; Lujan Syndrome; Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies; Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum; Mental retardation, X-linked, with marfanoid habitus; none provided; Ohdo syndrome, X-linked; Opitz-Kaveggia syndrome; X-linked mental retardation with marfanoid habitus syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MED12
Accession:NM_005120
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442702
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442701
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442699
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442704
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442700
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442703
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000254396 CLINVAR
  RCV000832621 CLINVAR
  RCV001775732 CLINVAR
  RCV001775733 CLINVAR
  RCV001775734 CLINVAR
dbSNP (RS) rs12850852 CLINVAR
MedGen C0796022 CLINVAR
  C3661900 CLINVAR
  C3698541 CLINVAR
  C5399762 CLINVAR
  CN169374 CLINVAR
NCBI Gene MED12 CLINVAR
OMIM 300188 CLINVAR
  300895 CLINVAR
  305450 CLINVAR
  309520 CLINVAR
SNOMED CT 422437002 CLINVAR