CYP2A6 L160H - GET-Evidence

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

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CYP2A6 L160H

(CYP2A6 Leu160His)


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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 @ chr19:41354533: 1.7% (185/10754) in EVS
  • T @ chr19:46046372: 1.6% (2/124) in GET-Evidence
  • Frequency shown in summary reports: 1.7% (185/10754)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.045 (benign)
    Web search results (127 hits -- see all)
  • Repository samples with pharmacogenetic variants verified by ...
    LEU160HIS. NP_000753.2. CYP2A6*2. A/T. 4. NA10847. DNA. CYP2A6. rs1801272 ... CYP2A6*2. T/T. 5. NA10857. DNA. CYP2A6. rs1801272. 50707A>T. NG_000008.6. LEU160HIS ...
    ccr.coriell.org/Excel/NIGMS/PharmVerifiedVariants.xls
  • Rs1801272 - SNPedia
    23andMe. rs1801272. SNP Nexus. Gene. CYP2A6. Chromosome. 19. Orientation. minus ... part of the "slow metabolizer" group; part of the CYP2A6*2 haplotype. ...
    www.snpedia.com/index.php?title=Rs1801272&oldid=294950
  • CYP2A6 Gene - GeneCards | CP2A6 Protein | CP2A6 Antibody
    EntrezGene summary for CYP2A6: This gene, CYP2A6, encodes a member of ... CYP2A6 Gene in genomic location: bands according to Ensembl, locations according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2A6
  • PLoS ONE: Phase I Metabolic Genes and Risk of Lung Cancer ...
    PLoS ONE: an inclusive, peer-reviewed, open-access resource from the PUBLIC LIBRARY OF ... We genotyped CYP2A6 rs1801272 (also known as CYP2A6*2) because this SNP is relatively ...
    plosone.org/article/info:doi/10.1371/journal.pone.0005652
  • CYP2A6
    To be considered CYP2A6*1A, the genomic reference sequence must be changed to ... CYP2A6*1B4. CYP2A6.1. gene conversion in 3' flanking region. gene ...
    www.cypalleles.ki.se/cyp2a6.htm
  • CYP2A6 [PharmGKB]
    CYP2A6 is a highly polymorphic gene. Currently, there are 23 numbered (e.g. CYP2A6*2) ... rs1801272 at chr19:46046373 in CYP2A6. This variant results in enzyme inactivity and is ...
    www.pharmgkb.org/do/serve?objId=PA121&objCls=Gene
  • Pharma DMET - SNPedia
    ... snp rs4986891 CYP2A6 CYP2A6_1799T>A(L160H) CYP2A6*2_1799T>A(L160H) core snp rs1801272 CYP2A6 CYP2A6_1874>(rs28399442) CYP2A6_1874G>T(rs28399442) ...
    www.snpedia.com/index.php/Pharma_DMET
  • Nicotine metabolism and CYP2A6 allele frequencies in Koreans
    and frequencies of CYP2A6 alleles, we studied nicotine metabolism and the CYP2A6 ... L160H. G479V. Fig. 1. Schematic structures of human CYP2A6 alleles. ...
    www.p.kanazawa-u.ac.jp/~taisha/Pharmacogenetics2001_317.pdf
  • Gendia | Pharmacogenetic Tests
    Tests determining the toxicity of chemotherapeutics such as 5-Fluorouracil, ... Such toxicity is caused by mutations in the genes encoding Dihydropyrimidine ...
    www.gendia.net/tests_tab17.html

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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