RGD:13625492 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:13625492 -  Homo sapiens

RGD ID: 13625492
RS ID: rs371539279
ClinVar ID: CV519947
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIGG  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 501,392
GRCh38 4 507,603
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001345986.2:c.492+10G>A
NM_001345987.2:c.492+10G>A
NM_017733.5:c.759+10G>A
NM_001345988.2:c.-129+10G>A
More... 		11/13/2017 intron variant likely benign GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13; Mental retardation, autosomal recessive 53; NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PIGG
Accession:NM_001345994
Location:5UTRS;INTRON

Gene Symbol:PIGG
Accession:NM_001345991
Location:5UTRS;INTRON

Gene Symbol:PIGG
Accession:NM_001345990
Location:5UTRS;INTRON

Gene Symbol:PIGG
Accession:NM_001345988
Location:5UTRS;INTRON

Gene Symbol:PIGG
Accession:XM_011513490
Location:INTRON

Gene Symbol:PIGG
Accession:XM_047415853
Location:INTRON

Gene Symbol:PIGG
Accession:XM_047415851
Location:INTRON

Gene Symbol:PIGG
Accession:XM_047415852
Location:INTRON

Gene Symbol:PIGG
Accession:NM_017733
Location:INTRON

Gene Symbol:PIGG
Accession:NM_001289055
Location:INTRON

Gene Symbol:PIGG
Accession:XM_047415857
Location:INTRON

Gene Symbol:PIGG
Accession:XM_047415849
Location:INTRON

Gene Symbol:PIGG
Accession:NM_001289053
Location:INTRON

Gene Symbol:PIGG
Accession:XM_011513492
Location:INTRON

Gene Symbol:PIGG
Accession:NM_001345989
Location:INTRON

Gene Symbol:PIGG
Accession:NM_001345986
Location:INTRON

Gene Symbol:PIGG
Accession:XM_011513494
Location:INTRON

Gene Symbol:PIGG
Accession:XM_047415850
Location:INTRON

Gene Symbol:PIGG
Accession:XM_047415848
Location:INTRON

Gene Symbol:PIGG
Accession:XM_047415847
Location:INTRON

Gene Symbol:PIGG
Accession:XM_047415846
Location:INTRON

Gene Symbol:PIGG
Accession:NM_001127178
Location:INTRON

Gene Symbol:PIGG
Accession:NM_001289052
Location:INTRON

Gene Symbol:PIGG
Accession:NM_001345987
Location:INTRON

Gene Symbol:PIGG
Accession:NM_001289057
Location:INTRON

Gene Symbol:PIGG
Accession:NM_001289051
Location:INTRON

Gene Symbol:PIGG
Accession:XM_047415856
Location:INTRON

Gene Symbol:PIGG
Accession:XM_047415854
Location:INTRON

Gene Symbol:PIGG
Accession:XM_047415855
Location:INTRON

Gene Symbol:PIGG
Accession:NR_144327
Location:INTRON;NON-CODING

Gene Symbol:PIGG
Accession:NR_144328
Location:INTRON;NON-CODING

Gene Symbol:PIGG
Accession:NR_144330
Location:INTRON;NON-CODING

Gene Symbol:PIGG
Accession:NR_144326
Location:INTRON;NON-CODING

Gene Symbol:PIGG
Accession:NR_144331
Location:INTRON;NON-CODING

Gene Symbol:PIGG
Accession:NR_144329
Location:INTRON;NON-CODING

Gene Symbol:PIGG
Accession:NR_144332
Location:INTRON;NON-CODING

Gene Symbol:PIGG
Accession:NR_144333
Location:INTRON;NON-CODING

Gene Symbol:PIGG
Accession:XR_924965
Location:INTRON;NON-CODING

Gene Symbol:PIGG
Accession:NR_110293
Location:INTRON;NON-CODING

Gene Symbol:PIGG
Accession:NR_144334
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000653438 CLINVAR
dbSNP (RS) rs371539279 CLINVAR
MedGen C4310794 CLINVAR
NCBI Gene PIGG CLINVAR
OMIM 616917 CLINVAR
  616918 CLINVAR