RGD:11622513 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:11622513 -  Homo sapiens

RGD ID: 11622513
RS ID: rs59096963
ClinVar ID: CV331054
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LPIN2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 18 3,011,743
GRCh38 18 3,011,745
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_174t1:c.-37C>G
NM_014646.2:c.-37C>G
LRG_174:g.5203C>G
NG_007507.1:g.5203C>G
More... 		10/19/2016 5 prime utr variant benign|likely benign infancy <1 / 1 000 000 AllHighlyPenetrant; 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_014646
Location:5UTRS;EXON

Gene Symbol:LPIN2
Accession:XM_047437958
Location:5UTRS;EXON

Gene Symbol:LPIN2
Accession:NM_001375809
Location:5UTRS;INTRON

Gene Symbol:LPIN2
Accession:NM_001375808
Location:5UTRS;INTRON

Gene Symbol:LPIN2
Accession:XM_005258177
Location:INTRON

Gene Symbol:LPIN2
Accession:XM_017026099
Location:INTRON

Gene Symbol:LPIN2
Accession:XM_047437959
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000361385 CLINVAR
  RCV000417764 CLINVAR
dbSNP (RS) rs59096963 CLINVAR
MedGen C1864997 CLINVAR
  CN169374 CLINVAR
NCBI Gene LPIN2 CLINVAR
OMIM 605519 CLINVAR
  609628 CLINVAR