APOC2 K19T - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

APOC2 K19T

(APOC2 Lys19Thr)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (15 hits -- see all)
  • Resequencing Genomic DNA of Patients With Severe ...
    The known APOC2 p.K19T variant was previously associated with ... When heterozygotes for either APOC2 p.K19T or IVS2–30G>A were included, 10.0% of severe ...
    atvb.ahajournals.org/cgi/content/full/27/11/2450
  • Resequencing Genomic DNA of Patients With Severe ...
    Published online before print August 23, 2007, doi: 10.1161/ATVBAHA.107.150680 ... p.D25H, p.W86R, p.G188E, p.I194T and p.P207L; APOC2 p.K19T and IVS2 ...
    atvb.ahajournals.org/cgi/content/abstract/...
  • Mendelian Inheritance in Man Document Reader
    The APOC2 gene contains 3,338 nucleotides, with 3 introns and 4 exons. ... DEFICIENCY APOC2, LYS19THR Hegele et al. (1991) described a K19T mutation in ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+207750
  • Genetics of the cardiometabolic syndrome
    APOC2. APOA5. GPIHBP1. K19T. LPL. APOC2. APOA5. GPIHBP1. K19T. LPL. APOC2. APOA5 ... APOC2. APOA5. GPIHBP1. K19T. LPL. APOC2. APOA5. GPIHBP1. K19T. LPL. APOC2. APOA5 ...
    utsouthwestern.edu/vgn/images/portal/cit_56417/7/14/...
  • Resequencing Genomic DNA of Patients With Severe ...
    The known APOC2 p.K19T variant was previously associated with dyslipidemia. ... When heterozygotes for either APOC2 p.K19T or A were included, 10.0% of severe ...
    39kf.com/cooperate/qk/.../0711/2008-12-28-549222.shtml
  • Hypertriglyceridemia - Studies from J. Wang and co ...
    NewsRx is the leading source of news and information on Hypertriglyceridemia ... W86R, p. G188E, p. I194T and p. P207L; APOC2 p. K19T and IVS2-30G > A) in 10.0% of severe ...
    newsrx.com/newsletters/Blood-Weekly/.../801312008256BW.html
  • APOA5 and triglyceride metabolism, lesson from human APOA5 ...
    BioInfoBank Library :: APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency. GPIHBP1: an endothelial cell molecule important for the lipolytic ...
    lib.bioinfo.pl/pmid:16531747
  • Kennedy, BA (Brooke A)
    Kennedy, BA (Brooke A) :: Spatial and temporal variation in the mosquitoes (Diptera: Culicidae) inhabiting waste tires in Nicholas County, West Virginia. ...
    lib.bioinfo.pl/auid:4181601

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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