RGD:402509849 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:402509849 -  Homo sapiens

RGD ID: 402509849
ClinVar ID: CV3182207
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC132090498  PIGN  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 59,781,881
GRCh38 18 62,114,648
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_012327.6:c.1173-9T>A
NM_176787.5:c.1173-9T>A
NG_231056.1:g.112A>T
NG_033144.2:g.77408T>A
More... 		03/11/2023 intron variant likely benign Congenital disorder of glycosylation due to PIGN deficiency; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3; PIGN-CDG
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PIGN
Accession:XM_011525896
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525898
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437435
Location:INTRON

Gene Symbol:PIGN
Accession:XM_017025685
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437442
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437431
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437464
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437463
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525891
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437461
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437454
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525892
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525895
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437439
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437434
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437449
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437462
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437441
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525889
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437433
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437458
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437448
Location:INTRON

Gene Symbol:PIGN
Accession:NM_176787
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525894
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525893
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437450
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437444
Location:INTRON

Gene Symbol:PIGN
Accession:NM_012327
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437436
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437447
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437443
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437438
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437453
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437452
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437451
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437432
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437455
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437445
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437437
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437446
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437459
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437456
Location:INTRON

Gene Symbol:PIGN
Accession:XM_011525890
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437440
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437457
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437460
Location:INTRON

Gene Symbol:PIGN
Accession:XM_047437430
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003878861 CLINVAR
MedGen C3279775 CLINVAR
NCBI Gene LOC132090498 CLINVAR
  PIGN CLINVAR
OMIM 606097 CLINVAR
  614080 CLINVAR