RGD:11653885 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:11653885 -  Homo sapiens

RGD ID: 11653885
RS ID: rs886059243
ClinVar ID: CV292839
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPGD  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 175,411,523
GRCh38 4 174,490,372
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_001256305.2:c.*1712A>G
NM_001256306.2:c.*1584A>G
NM_001256307.2:c.*1584A>G
NM_001145816.3:c.*1684A>G
More... 		06/14/2016 3 prime utr variant uncertain significance childhood|infancy <1 / 1 000 000 ACROPACHY, HEREDITARY; CLUBBING OF DIGITS; PHO, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HPGD
Accession:NM_000860
Location:3UTRS;EXON

Gene Symbol:HPGD
Accession:NM_001256306
Location:3UTRS;EXON

Gene Symbol:HPGD
Accession:NM_001256307
Location:3UTRS;EXON

Gene Symbol:HPGD
Accession:NM_001145816
Location:3UTRS;EXON

Gene Symbol:HPGD
Accession:NM_001256305
Location:3UTRS;EXON

Gene Symbol:HPGD
Accession:NM_001256301
Location:3UTRS;EXON

Gene Symbol:HPGD
Accession:NM_001363574
Location:INTRON

Gene Symbol:HPGD
Accession:XR_938728
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000313619 CLINVAR
  RCV000395778 CLINVAR
dbSNP (RS) rs886059243 CLINVAR
MedGen C0345408 CLINVAR
  C4551679 CLINVAR
NCBI Gene HPGD CLINVAR
OMIM 119900 CLINVAR
  259100 CLINVAR
  601688 CLINVAR