rs372668179 Rat Genome Database

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Variant: rs372668179 -  Homo sapiens

RGD ID: 13531678
RS ID: rs372668179
ClinVar ID: CV511752
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LPL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 19,811,679
GRCh38 8 19,954,168
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000237.2:c.590G>A
NP_000228.1:p.Arg197His
NC_000008.11:g.19954168G>A
NG_008855.2:g.57452G>A
More... 		01/24/2024 missense variant pathogenic|likely pathogenic|uncertain significance AllHighlyPenetrant; Hyperapobetalipoproteinemia; Hyperlipidemia, familial combined; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:LPL
Accession:NM_000237
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESKALLVLTLAVWLQSLTASRGGVAAADQRRDFIDIESKFALRTPEDTAEDTCHLIPGVAESVATCHFNHSSKTFMVIH
GWTVTGMYESWVPKLVAALYKREPDSNVIVVDWLSRAQEHYPVSAGYTKLVGQDVARFINWMEEEFNYPLDNVHLLGYSL
GAHAAGIAGSLTNKKVNRITGLDPAGPNFEYAEAPSHLSPDDADFVDVLHTFTRGSPGRSIGIQKPVGHVDIYPNGGTFQ
PGCNIGEAIRVIAERGLGDVDQLVKCSHERSIHLFIDSLLNEENPSKAYRCSSKEAFEKGLCLSCRKNRCNNLGYEINKV
RAKRSSKMYLKTRSQMPYKVFHYQVKIHFSGTESETHTNQAFEISLYGTVAESENIPFTLPEVSTNKTYSFLIYTEVDIG
ELLMLKLKWKSDSYFSWSDWWSSPGFAIQKIRVKAGETQKKVIFCSREKVSHLQKGKAPAVFVKCHDKSLNKKSG*
Variant Samples
Additional References at PubMed
PMID:12839295   PMID:18068174   PMID:22239554   PMID:25741868   PMID:25966443   PMID:28267856   PMID:28492532   PMID:32041611   PMID:33217533   PMID:33588820   PMID:35309119   PMID:35368694  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001249092 CLINVAR
  RCV001420845 CLINVAR
  RCV001860433 CLINVAR
  RCV002358745 CLINVAR
dbSNP (RS) rs372668179 CLINVAR
MedGen C0020474 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene LPL CLINVAR
OMIM 144250 CLINVAR
  609708 CLINVAR