RGD:28871810 Rat Genome Database

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Variant: RGD:28871810 -  Homo sapiens

RGD ID: 28871810
RS ID: rs1388541862
ClinVar ID: CV899228
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LPL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 19,796,851
GRCh38 8 19,939,340
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.19939340C>T
NC_000008.10:g.19796851C>T
NM_000237.2:c.-101C>T
NM_000237.3:c.-101C>T
More... 		01/13/2018 5 prime utr variant uncertain significance Familial chylomicronemia; Familial hyperlipo-proteinemia type 1; Familial Lipoprotein Lipase Deficiency; Hyperchylomicro-nemia familial; Hyperlipemia essential familial; Hyperlipemia idiopathic Burger-Grutz type; Hyperlipoproteinemia type 1; HYPERLIPOPROTEINEMIA, TYPE IA; Lipase D deficiency; Lipoprotein lipase deficiency; LPL deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LPL
Accession:NM_000237
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001164120 CLINVAR
dbSNP (RS) rs1388541862 CLINVAR
MedGen C0023817 CLINVAR
NCBI Gene LPL CLINVAR
OMIM 238600 CLINVAR
  609708 CLINVAR
SNOMED CT 275598004 CLINVAR