RGD:11610978 Rat Genome Database

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Variant: RGD:11610978 -  Homo sapiens

RGD ID: 11610978
RS ID: rs11570893
ClinVar ID: CV308469
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LPL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 19,823,770
GRCh38 8 19,966,259
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
NC_000008.11:g.19966259G>A
NC_000008.10:g.19823770G>A
NM_000237.3:c.*949G>A
NM_000237.2:c.*949G>A
More... 		01/13/2018 3 prime utr variant benign|likely benign 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:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000389011 CLINVAR
dbSNP (RS) rs11570893 CLINVAR
MedGen C0023817 CLINVAR
NCBI Gene LPL CLINVAR
OMIM 238600 CLINVAR
  609708 CLINVAR
SNOMED CT 275598004 CLINVAR