ABCA1 R219K - GET-Evidence

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

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Curation:
Currentness:

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ABCA1 R219K

(ABCA1 Arg219Lys)


You are viewing an old version of this page that was saved on January 12, 2010 at 12:24pm by Abraham Rosenbaum.

Edited in this revision:

Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • T @ chr9:107620867: 39.3% (4225/10758) in EVS
  • T @ chr9:106660687: 39.1% (50/128) in GET-Evidence
  • Frequency shown in summary reports: 39.3% (4225/10758)

Publications
 

Cenarro A, Artieda M, Castillo S, Mozas P, Reyes G, Tejedor D, Alonso R, Mata P, Pocoví M, Civeira F; Spanish FH group. A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia. J Med Genet. 2003 Mar;40(3):163-8. PubMed PMID: 12624133; PubMed Central PMCID: PMC1735389.

 

Katzov H, Bennet AM, Höglund K, Wiman B, Lütjohann D, Brookes AJ, Andreasen N, Blennow K, De Faire U, Prince JA. Quantitative trait loci in ABCA1 modify cerebrospinal fluid amyloid-beta 1-42 and plasma apolipoprotein levels. J Hum Genet. 2006;51(3):171-9. Epub 2005 Dec 22. PubMed PMID: 16372134.

 

Genomes
 

NA07022

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

snp-1

 

snp-2

 

snp-6

 

Other external references
 

    GeneTests
  • GeneTests records for the ABCA1 gene
    ABCA1-Associated Familial High Density Lipoprotein Deficiency
    Familial High Density Lipoprotein Deficiency
    Tangier Disease
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCA1

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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