CYP1B1 V432L - GET-Evidence

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

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CYP1B1 V432L

(CYP1B1 Val432Leu)


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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

  • G @ chr2:38298203: 44.5% (4786/10758) in EVS
  • G @ chr2:38151706: 43.0% (55/128) in GET-Evidence
  • Frequency shown in summary reports: 44.5% (4786/10758)

Publications
 

Genomes
 

Other external references
 

    Web search results (200 hits -- see all)
  • Combination of Polymorphisms From Genes Related to Estrogen ...
    Association Between CYP1B1 V432L and CYP19 TTTA Repeat Variants and Risk of ... The V432L CYP1B1 and the V158M COMT polymorphisms are the main variants studied ...
    jco.ascopubs.org/cgi/content/full/25/24/3596
  • Dissertations from Karolinska Institutet - Published by ...
    In the same patient material, the CYP1B1 V432L polymorphism was studied in relation to ... Association of CYP1B1 V432L polymorphism with prostate cancer metastases. ...
    diss.kib.ki.se/2001/91-89428-12-9
  • Associations of common variants in genes involved in ...
    RESULTS: Evaluations of the CYP1B1 V432L variant (rs1056836) suggested increased ... CONCLUSIONS: CYP1B1 activates chemicals such as polycyclic aromatic hydrocarbons ...
    www.ncbi.nlm.nih.gov/pubmed/19736056
  • Polymorphisms in estrogen biosynthesis and metabolism-related ...
    Assuming a recessive model, the minor allele of CYP1B1 V432L significantly increased the dose-response relationship between personal diagnostic X-ray ...
    www.ncbi.nlm.nih.gov/pubmed/19214745
  • Variation in genes relevant to aromatic hydrocarbon ...
    The CYP1B1 V432L homozygous variant was associated with decreased risk of meningioma (odds ratio [OR] = 0.6; 95% CI, 0.3-1.0) but not the other tumor types. ...
    neuro-oncology.oxfordjournals.org/cgi/content/abstract/8/...
  • Meningioma - Link between meningioma risk and GSTM3 alleles ...
    NewsRx is the leading source of news and information on Meningioma ... "The CYP1B1 V432L homozygous variant was associated with decreased risk of meningioma ...
    www.newsrx.com/article.php?articleID=327942
  • Publicationlist
    IPA - Research for Health Protection ... in the cytochrome P-450 genes CYP1A1T461N, 3801 T > C and CYP1B1 V432L, and in the glutathione S-transferase ...
    ipa.ruhr-uni-bochum.de/e/publik/litera/literaliste.php?...
  • [A novel mutation of CYP1B1 gene in primary congenital ...
    Huang JF, Zhou J, Wang H, Chen D, Zeng LP, Tong JB, Xia XB, Hu ZM ABSTRACT: OBJECTIVE: To investigate the distribution of the CYP1B1 (Cytochrome P450, family 1, ...
    labmeeting.com/paper/29556979/huang-2009-a-novel-mutation-of-cyp1b1...
  • Publications Search
    Title: Variation in genes relevant to aromatic hydrocarbon metabolism and the risk of adult brain tumors. ... The CYP1B1 V432L homozygous variant was associated with decreased ...
    dceg2.cancer.gov/cgi-bin-pubsearch/pubsearch/index.pl?...
  • Euromedica 2009 A.V. Polonikov, V.P. Ivanov, M.A. Solodilova ...
    The interaction between EPHX1 Y113H, CYP1B1 V432L and CYP2D6 G1934A loci has ... such as EPHX1 and CYP1B1, showed signi´Čücant associations with susceptibility ...
    congress-euromedica.de/abstrakt2009/...

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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