DSE P34L - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

(See the latest version)

DSE P34L

(DSE Pro34Leu)


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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 @ chr6:116720514: 5.0% (538/10758) in EVS
  • T @ chr6:116827206: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 5.0% (538/10758)

Publications
 

Genomes
 

Added in this revision:

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr6:116720514

 

Other external references
 

    dbSNP
  • rs35548455
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.953 (probably damaging)
    Web search results (9 hits -- see all)
  • DSE Gene - GeneCards | DSE Protein | DSE Antibody
    EntrezGene summary for DSE: The protein encoded by this gene is a ... DSE Gene in genomic location: bands according to Ensembl, locations according to ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=DSE
  • Dermatan-sulfate epimerase precursor - Homo sapiens (Human)
    Enter your search text here. Enter your search query here. Reset button ... DSE. Synonyms: SART2. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ...
    www.uniprot.org/uniprot/Q9UL01
  • [ Text 1 MB ]
    CfP: EcoDesign 2005 Message-ID: <a06001009be7a5bb189ca@mech.eng. ... Design and Inverse Manufacturing http://www.ecodenet.com/ed2005/index.htm December 12-14, ...
    www.ecodesign.at/pipermail/discussion/2005q2.txt
  • Technical Innovation
    Panasonic - AJ-HD1400 - Portable 1/2 rack DVCPRO HD Player/Recorder with Assemble and ... AJ-P34L - Large DVCPRO Cassette. Panasonic. AJ-P34L. Large DVCPRO ...
    www.becstore.com/search.php?man=Panasonic
  • Web Biennial 2005 - Jacques Perconte - I love you
    This time there is something like two hundred octets of pure love here (0.03 ... ccjJ6ULtHQlSA9RsYzpwnjzt24XLUmaUyWMlpaIyYwWI6P8UYyvDcqgfXNMj8Pukd0+DsE ...
    iloveyou.38degres.net/marse05/index.php?iii=150
  • [ecodesign] Tagungseinladung
    Previous message: [ecodesign] DF 26: Life Cycle Approaches for Green ... Next message: [ecodesign] EcoDesign Workshop Salzburg. Messages sorted by: [ date ] ...
    www.ecodesign.at/pipermail/discussion/2005q2/000103.html
  • P43½g*å*il¡Å`¬k4**s&áéσ"*¼;cI*ìΘåT4&hà"|₧¢...
    m1x*iΩ*+*&u*Wò}*[²ÉΣnX**Ä p34L*:o*+"bµH6OB¼½ƒôHI9OñïìÆ!]èó**Kwè ... ììΩ*ΦpÑMdSé:*Q*!ä·<ÿï*δaτÆ ...
    web.tiscali.it/mariocamillino/h2jcentraor05.ppt
  • MinMacPlusSweet-teX.cpt-hqx
    ... QCZUX-[0$0[FVE$!hF!!!!d!$8!c999PCQChGQGhGfGhH)GhH)G iL)L)L)L)KiL)L)H)Q)L*LBL)HCL) ... 1Pi!)l(-Z!M@r'i#2i%X"!K0B!)hlSSrk Fj`%IrbAJJ4FZ!MDq!i#-2[A3am$S)G'%1q! ...
    ftp.univie.ac.at/packages/tex/systems/mac/sweet-tex/...
  • 千尋---不認三年髮妻-名家創作
    摩尼BBS網路社區 - 台灣摩尼網 ... 摩尼網2008年6月份重大公告. 花蓮新生男嬰遭棄,身上1000元. 商務廣告. 搜尋此區搜尋所有區域 >>> 名家小說創作專區,有標示作者名字的文章皆發表在此. 摩尼BBS網路社區 網路文章 名家創作 [返回] 瀏覽:千尋---不認三年髮妻. 標記社區所有內容為已讀取. 總在線 1806 人,此區共有 795 人瀏覽。 ...
    bbs.moninet.com.tw/board/topic.cgi?forum=107&topic=14324&...

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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