Variant: rs121918397 

    present in Gene: APOE
    present in Chromosome: 19
    Position on Chromosome: 44908784
    Alleles of this Variant: G/A;C

rs121918397 in APOE gene and Hyperlipoproteinemia Type III PMID 1361196 1992 Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene.

PMID 22481068 2012 Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia.

PMID 8287539 1994 Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA.

PMID 2101409 1991 Identification and characterization of a new variant of apolipoprotein E (apo E-Kochi).

PMID 2738044 1989 Identification of human apolipoprotein E variant gene: apolipoprotein E7 (Glu244,245----Lys244,245).

PMID 1674745 1991 Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.

PMID 2556398 1989 Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121-127.

PMID 7635945 1995 Dominant expression of type III hyperlipoproteinemia. Pathophysiological insights derived from the structural and kinetic characteristics of ApoE-1 (Lys146-->Glu).

PMID 22962670 2012 Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline.

rs121918397 in APOE gene and LIPOPROTEIN GLOMERULOPATHY PMID 9176854 1997 Apolipoprotein E Sendai (arginine 145-->proline): a new variant associated with lipoprotein glomerulopathy.

PMID 10432380 1999 Lipoprotein glomerulopathy (LPG) is characterized by intraglomerular lipoprotein thrombosis and high plasma concentrations of apolipoprotein (apo) E. An apo E variant, apo E2 (Arg145Pro) Sendai, was recently identified in three patients with LPG.

PMID 10903326 2000 Recent studies identified several apoE mutations in patients with LPG, including apoE2(R145P) Sendai (apoE-Sendai).

PMID 18077821 2007 APOE Kyoto mutation in European Americans with lipoprotein glomerulopathy.