RGD:13828368 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:13828368 -  Homo sapiens

RGD ID: 13828368
RS ID: rs746747159
ClinVar ID: CV579816
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRICKLE1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 42,858,193
GRCh38 12 42,464,391
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012965.1:g.130380C>T
NC_000012.12:g.42464391G>A
NC_000012.11:g.42858193G>A
NM_001144881.2:c.1639+4C>T
More... 		05/31/2016 intron variant uncertain significance PME; Progressive myoclonus epilepsy with ataxia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRICKLE1
Accession:NM_001144883
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_047428333
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_047428328
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_017018838
Location:INTRON

Gene Symbol:PRICKLE1
Accession:NM_001144882
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_017018839
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_011537947
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_047428335
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_047428329
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_047428327
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_047428334
Location:INTRON

Gene Symbol:PRICKLE1
Accession:NM_001144881
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_011537946
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_047428330
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_017018840
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_047428332
Location:INTRON

Gene Symbol:PRICKLE1
Accession:NM_153026
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002312378 CLINVAR
  RCV002534533 CLINVAR
dbSNP (RS) rs746747159 CLINVAR
MedGen C0950123 CLINVAR
  C2676254 CLINVAR
NCBI Gene PRICKLE1 CLINVAR
OMIM 608500 CLINVAR
  612437 CLINVAR