RGD:11657699 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:11657699 -  Homo sapiens

RGD ID: 11657699
RS ID: rs886053964
ClinVar ID: CV342049
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TCF4  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 18 53,255,610
GRCh38 18 55,588,379
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001243230.2:c.66+91A>C
NG_011716.2:g.52615A>C
NC_000018.10:g.55588379T>G
NC_000018.9:g.53255610T>G
More... 		01/13/2018 5 prime utr variant|intron variant uncertain significance infancy <1 / 1 000 000 ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION; MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION; Mental retardation, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TCF4
Accession:NM_001243228
Location:5UTRS;INTRON

Gene Symbol:TCF4
Accession:NM_001369568
Location:5UTRS;INTRON

Gene Symbol:TCF4
Accession:NM_001369584
Location:5UTRS;INTRON

Gene Symbol:TCF4
Accession:NM_001243227
Location:5UTRS;INTRON

Gene Symbol:TCF4
Accession:NM_001369576
Location:5UTRS;INTRON

Gene Symbol:TCF4
Accession:NM_001369586
Location:5UTRS;INTRON

Gene Symbol:TCF4
Accession:NM_001369571
Location:5UTRS;INTRON

Gene Symbol:TCF4
Accession:NM_001369572
Location:5UTRS;INTRON

Gene Symbol:TCF4
Accession:NM_001369577
Location:5UTRS;INTRON

Gene Symbol:TCF4
Accession:NM_001369567
Location:5UTRS;INTRON

Gene Symbol:TCF4
Accession:NM_001369569
Location:5UTRS;INTRON

Gene Symbol:TCF4
Accession:NM_001369582
Location:5UTRS;INTRON

Gene Symbol:TCF4
Accession:NM_001330604
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348220
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348215
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001306208
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348213
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369583
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369570
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001243231
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369581
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001243235
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348211
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001306207
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369575
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369574
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001243233
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001243230
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001243234
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001243236
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369585
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369578
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348217
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001330605
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001083962
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369573
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001243232
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348219
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348212
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348214
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001243226
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348218
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369579
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001369580
Location:INTRON

Gene Symbol:TCF4
Accession:NM_003199
Location:INTRON

Gene Symbol:TCF4
Accession:NM_001348216
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000343461 CLINVAR
dbSNP (RS) rs886053964 CLINVAR
MedGen C1970431 CLINVAR
NCBI Gene TCF4 CLINVAR
OMIM 602272 CLINVAR
  610954 CLINVAR