RGD:11602105 Rat Genome Database

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Variant: RGD:11602105 -  Homo sapiens

RGD ID: 11602105
RS ID: rs80351041
ClinVar ID: CV313650
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 19,796,669
GRCh38 8 19,939,158
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_000008.10:g.19796669G>T
LRG_1298t1:c.-283G>T
NM_000237.2:c.-283G>T
LRG_1298:g.42442G>T
More... 		05/04/2019 5 prime utr variant|upstream transcript variant likely benign|uncertain significance 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; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000288145 CLINVAR
  RCV001545856 CLINVAR
dbSNP (RS) rs80351041 CLINVAR
MedGen C0023817 CLINVAR
  C3661900 CLINVAR
NCBI Gene LPL CLINVAR
OMIM 238600 CLINVAR
  609708 CLINVAR
SNOMED CT 275598004 CLINVAR