RGD:11651776 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:11651776 -  Homo sapiens

RGD ID: 11651776
RS ID: rs886047013
ClinVar ID: CV321420
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RET  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 43,625,514
GRCh38 10 43,130,066
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
LRG_518t1:c.*1797T>C
LRG_518:g.57998T>C
NG_007489.1:g.57998T>C
NC_000010.11:g.43130066T>C
More... 		06/14/2016 3 prime utr variant uncertain significance antenatal|childhood 1-5 / 10 000|1-9 / 1 000 000 Chromaffin cell tumor; Chromaffin paraganglioma; Chromaffin tumor; Chromaffinoma; HEREDITARY RENAL APLASIA; Hirschsprung disease 1; HSCR 1; Medullary paraganglioma; RENAL APLASIA; RET-Related Hirschsprung Disease; Urogenital adysplasia, hereditary
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RET
Accession:NM_001406743
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406781
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406770
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406773
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406760
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406774
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406783
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406788
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406765
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406768
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406786
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406794
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406793
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406771
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406790
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406792
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406782
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406763
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406761
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406764
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406762
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406772
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406787
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406776
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406779
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406780
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406766
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406777
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406767
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406744
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406784
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_020975
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406759
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406775
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406769
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406785
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406778
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406789
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406791
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001355216
Location:INTRON

Gene Symbol:RET
Accession:NM_020630
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000301023 CLINVAR
  RCV000313773 CLINVAR
  RCV000349898 CLINVAR
  RCV000390500 CLINVAR
dbSNP (RS) rs886047013 CLINVAR
MedGen C0027662 CLINVAR
  C0031511 CLINVAR
  C1619700 CLINVAR
  C3888239 CLINVAR
NCBI Gene RET CLINVAR
OMIM 142623 CLINVAR
  164761 CLINVAR
  171300 CLINVAR
  191830 CLINVAR
SNOMED CT 46724008 CLINVAR