RGD:14693395 Rat Genome Database

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Variant: RGD:14693395 -  Homo sapiens

RGD ID: 14693395
RS ID: rs144466625
ClinVar ID: CV620297
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LPL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 19,813,574
GRCh38 8 19,956,063
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000237.3:c.998G>A
NG_008855.2:g.59347G>A
NC_000008.11:g.19956063G>A
NC_000008.10:g.19813574G>A
More... 		05/04/2022 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance Familial chylomicronemia; Familial hyperlipo-proteinemia type 1; Familial Lipoprotein Lipase Deficiency; Hyperapobetalipoproteinemia; Hyperchylomicro-nemia familial; Hyperlipemia essential familial; Hyperlipemia idiopathic Burger-Grutz type; Hyperlipidemia, familial combined; Hyperlipoproteinemia type 1; HYPERLIPOPROTEINEMIA, TYPE IA; Lipase D deficiency; Lipoprotein lipase deficiency; LPL deficiency; none provided
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: 333
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESKALLVLTLAVWLQSLTASRGGVAAADQRRDFIDIESKFALRTPEDTAEDTCHLIPGVAESVATCHFNHSSKTFMVIH
GWTVTGMYESWVPKLVAALYKREPDSNVIVVDWLSRAQEHYPVSAGYTKLVGQDVARFINWMEEEFNYPLDNVHLLGYSL
GAHAAGIAGSLTNKKVNRITGLDPAGPNFEYAEAPSRLSPDDADFVDVLHTFTRGSPGRSIGIQKPVGHVDIYPNGGTFQ
PGCNIGEAIRVIAERGLGDVDQLVKCSHERSIHLFIDSLLNEENPSKAYRCSSKEAFEKGLCLSCRKNRCNNLGYEINKV
RAKRSSKMYLKTHSQMPYKVFHYQVKIHFSGTESETHTNQAFEISLYGTVAESENIPFTLPEVSTNKTYSFLIYTEVDIG
ELLMLKLKWKSDSYFSWSDWWSSPGFAIQKIRVKAGETQKKVIFCSREKVSHLQKGKAPAVFVKCHDKSLNKKSG*
Variant Samples
Additional References at PubMed
PMID:24291057   PMID:25741868   PMID:25966443   PMID:27055971   PMID:28492532   PMID:28606150  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000778928 CLINVAR
  RCV001592959 CLINVAR
  RCV002249478 CLINVAR
  RCV002386360 CLINVAR
dbSNP (RS) rs144466625 CLINVAR
MedGen C0020474 CLINVAR
  C0023817 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene LPL CLINVAR
OMIM 144250 CLINVAR
  238600 CLINVAR
  609708 CLINVAR
SNOMED CT 275598004 CLINVAR