CES1 R4P - 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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CES1 R4P

(CES1 Arg4Pro)


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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 @ chr16:55866957: 0.1% (6/10510) in EVS
  • G @ chr16:54424457: 11.3% (14/124) in GET-Evidence
  • Frequency shown in summary reports: 0.1% (6/10510)

Publications
 

Genomes
 

Added in this revision:

snp-30

 

Other external references
 

    PolyPhen-2
  • Score: 0.24 (possibly damaging)
    Web search results (5 hits -- see all)
  • AceView: Gene:CES1, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=CES1
  • Red Deer Open Source Society
    Open World Open Source ... control LzC NRz benicar purchase, where can i buy potassium chloride CeS1 dNM ultracet usa, buy potassium cyanide online kQB M8h8 buy nolvadex canada, ...
    ross.linux.ab.ca/modules.php?name=News&file=comments&...
  • Астрономический вестник (science.natural.astronews ...
    Информационный Канал Subscribe.Ru Астрономическая фотография недели = Предисловие - Всем привет! ...
    subscribe.ru/archive/.../200301/26050543.html
  • MANGIster
    Witam wszystkich w ten upalny dzień :) Dziś mam kilka wiadomości dla Was: ... Po drugie, na naszej stronie dostępne są kolejne rozdziały: BASILISK v1ch4, ...
    www.mangister.info/news.php?readmore=13

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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