RGD:127324600 Rat Genome Database

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Variant: RGD:127324600 -  Homo sapiens

RGD ID: 127324600
RS ID: rs2144115979
ClinVar ID: CV1148079
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LPIN2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 18 2,921,523
GRCh38 18 2,921,525
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_174t1:c.2442+8T>C
NM_001375808.2:c.2442+8T>C
NM_001375809.1:c.2442+8T>C
NM_014646.2:c.2442+8T>C
More... 		09/07/2020 intron variant likely benign 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:XM_047437958
Location:INTRON

Gene Symbol:LPIN2
Accession:NM_014646
Location:INTRON

Gene Symbol:LPIN2
Accession:NM_001375808
Location:INTRON

Gene Symbol:LPIN2
Accession:NM_001375809
Location:INTRON

Gene Symbol:LPIN2
Accession:XM_047437959
Location:INTRON

Gene Symbol:LPIN2
Accession:XM_017026099
Location:INTRON

Gene Symbol:LPIN2
Accession:XM_005258177
Location:INTRON

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 RCV001485512 CLINVAR
dbSNP (RS) rs2144115979 CLINVAR
MedGen C1864997 CLINVAR
NCBI Gene LPIN2 CLINVAR
OMIM 605519 CLINVAR
  609628 CLINVAR