RGD:28902457 Rat Genome Database

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Variant: RGD:28902457 -  Homo sapiens

RGD ID: 28902457
RS ID: rs754769201
ClinVar ID: CV879063
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127888644  LPIN2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 18 2,919,631
GRCh38 18 2,919,633
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000018.9:g.2919631T>C
LRG_174t1:c.*660A>G
NM_001375809.1:c.*660A>G
NM_014646.2:c.*660A>G
More... 		01/13/2018 3 prime utr 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_014646
Location:3UTRS;EXON

Gene Symbol:LPIN2
Accession:NM_001375808
Location:3UTRS;EXON

Gene Symbol:LPIN2
Accession:XM_017026099
Location:3UTRS;EXON

Gene Symbol:LPIN2
Accession:XM_005258177
Location:3UTRS;EXON

Gene Symbol:LPIN2
Accession:NM_001375809
Location:3UTRS;EXON

Gene Symbol:LPIN2
Accession:XM_047437959
Location:3UTRS;EXON

Gene Symbol:LPIN2
Accession:XM_047437958
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001125221 CLINVAR
dbSNP (RS) rs754769201 CLINVAR
MedGen C1864997 CLINVAR
NCBI Gene LPIN2 CLINVAR
OMIM 605519 CLINVAR
  609628 CLINVAR