CES1 R4P - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

CES1 R4P

(CES1 Arg4Pro)


Short summary

 

Variant evidence
Computational

PolyPhen-2 reports: Unable to locate protein entry ces1 in the available version of UniProtKB.

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
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr16:55866957

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr16:55866957

 

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom G @ chr16:55866957

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr16:55866957

 

GS12004 - var-GS12004-1100-36-ASM
hom G @ chr16:54424458

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr16:54424458

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr16:54424458

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr16:54424458

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr16:54424458

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr16:54424458

 

GS19129 - var-GS19129-1100-36-ASM
het G @ chr16:54424458

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr16:54424458

 

Other external references
 

    dbSNP
  • rs111604615
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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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