RGD:38459571 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:38459571 -  Homo sapiens

RGD ID: 38459571
RS ID: rs2077102755
ClinVar ID: CV950478
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LPIN2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 2,924,543
GRCh38 18 2,924,545
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001375808.2:c.1940C>T
NM_001375809.1:c.1940C>T
NM_014646.2:c.1940C>T
NC_000018.9:g.2924543G>A
More... 		11/05/2019 missense variant uncertain significance CDA and CRMO; CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 1, WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA, WITH OR WITHOUT NEUTROPHILIC DERMATOSIS; Chronic recurrent multifocal osteomyelitis, congenital; Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis; Dyserythropoietic anemia, and neutrophilic dermatosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LPIN2
Accession:NM_001375809
Location:EXON

Gene Symbol:LPIN2
Accession:XM_005258177
Location:EXON

Gene Symbol:LPIN2
Accession:NM_001375808
Location:EXON

Gene Symbol:LPIN2
Accession:XM_047437959
Location:EXON

Gene Symbol:LPIN2
Accession:NM_014646
Location:EXON

Gene Symbol:LPIN2
Accession:XM_017026099
Location:EXON

Gene Symbol:LPIN2
Accession:XM_047437958
Location:EXON

Gene Symbol:LPIN2
Accession:XR_935074
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001229164 CLINVAR
dbSNP (RS) rs2077102755 CLINVAR
MedGen C1864997 CLINVAR
NCBI Gene LPIN2 CLINVAR
OMIM 605519 CLINVAR
  609628 CLINVAR