ABCA1 R219K - GET-Evidence

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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 March 29, 2011 at 8:55pm by Genome Importing Robot.

Short summary

 

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

Impact

Insufficiently evaluated pharmacogenetic

(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
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr9:107620867

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr9:107620867

 

hu3215A7 - PGP12 (hu3215A7) build 36, substitution variants, hu3215A7 build 36 substitution variants
het T @ chr9:106660688

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants
het T @ chr9:106660688

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom T @ chr9:107620867

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr9:107620867

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr9:107620867

 

Added in this revision:

GS06994 - var-GS06994-1100-36-ASM
het T @ chr9:106660688

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr9:106660688

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr9:106660688

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr9:106660688

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr9:106660688

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr9:106660688

 

NA07022

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

snp-1

 

snp-2

 

snp-27

 

snp-28

 

snp-29

 

snp-30

 

snp-31

 

snp-6

 

Other external references
 

    dbSNP
  • rs2230806
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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

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