rs1563572716 Rat Genome Database

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Variant: rs1563572716 -  Homo sapiens

RGD ID: 8556289
RS ID: rs1563572716
ClinVar ID: CV16565
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LPL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 19,809,279
GRCh38 8 19,951,768
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
NM_000237.2:c.250-1G>A
NC_000008.10:g.19809279G>A
NM_000237.3:c.250-1G>A
NG_008855.2:g.55052G>A
More... 		02/26/2013 splice acceptor variant pathogenic childhood 1-9 / 1 000 000 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:INTRON

Variant Samples
Additional References at PubMed
PMID:2121025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000001590 CLINVAR
dbSNP (RS) rs1563572716 CLINVAR
MedGen C0023817 CLINVAR
NCBI Gene LPL CLINVAR
OMIM 238600 CLINVAR
  609708 CLINVAR
OMIM Allele 609708.0008 CLINVAR
SNOMED CT 275598004 CLINVAR