RGD:152062289 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:152062289 -  Homo sapiens

RGD ID: 152062289
RS ID: rs189736132
ClinVar ID: CV1533025
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127820954  PEX16  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 45,938,999
GRCh38 11 45,917,448
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004813.4:c.148+10G>A
NM_057174.3:c.148+10G>A
NG_008460.1:g.5676G>A
NC_000011.10:g.45917448C>T
More... 		11/01/2021 intron variant likely benign ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL; ALD: Adrenoleukodystrophy, X-Linked; INFANTILE PHYTANIC ACID STORAGE DISEASE; PEROXISOME BIOGENESIS DISORDER (NALD/IRD); PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE); Peroxisome biogenesis disorders, Zellweger syndrome spectrum
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX16
Accession:XM_047427888
Location:5UTRS;INTRON

Gene Symbol:PEX16
Accession:XM_047427886
Location:5UTRS;INTRON

Gene Symbol:PEX16
Accession:XM_047427887
Location:5UTRS;INTRON

Gene Symbol:PEX16
Accession:NM_057174
Location:INTRON

Gene Symbol:PEX16
Accession:NM_004813
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002090399 CLINVAR
dbSNP (RS) rs189736132 CLINVAR
MedGen C1832200 CLINVAR
NCBI Gene PEX16 CLINVAR
OMIM 601539 CLINVAR
  603360 CLINVAR