ZAN L16F - 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:

ZAN L16F

(ZAN Leu16Phe)


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 @ chr7:100331837: 1.2% (113/9098) in EVS
  • T @ chr7:100169772: 2.5% (3/122) in GET-Evidence
  • Frequency shown in summary reports: 1.2% (113/9098)

Publications
 

Genomes
 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom T @ chr7:100331837

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr7:100331837

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom T @ chr7:100331837

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr7:100169773

 

Other external references
 

    dbSNP
  • rs12673246
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (22 hits -- see all)
  • Zappa
    ... 1036864,40960,40961,37121,37122,40962,40963,37510,40964,36867,36868,33434,33437, ... N$ju>Nn!5HlHr[@t$8LEShJ?;l16F?rj_>^+0-_s3UU'I)_`'j-`lc9_jqWIOn&j #4k ...
    www.label.nl/press/Cork-2.eps
  • q3a07.mws
    ... 0 0 0 0 0 0 0 0 0 0 0 0 0 0 }0 0 0 -1 -1 -1 0 0 0 0 0 0 -1 0 }{PSTYLE "Maple P ... ndiff(y(t),t) = y(t) - x(t)^2 + 1], [x(t), y(t)], \+ \nt=-4..7, [[x(0) ...
    www.engr.mun.ca/~ggeorge/9420/solution/a4/q3a07.mws
  • *αí*ß>* *ú*,*-à*çêëèïîìÄÅÉæÆôöò...
    í@**ä!@**ä!@**ä!@**ä!@**ä!@**ä!*Z9. P*µEézY!*=Æ[çeT-í0ßStí*%éKlû*Xτ*εùküεqóMòòB*ä!B*ä!B*ä!B*ä,*Ç3òú£*RÇ*}UPcI.O*6*Ö¬*óδnmŽónWxyä`*ΩÑuΣ£HεδѺDr, ...
    rmspartnership.org/briefings/Final Presentation for Russ ...
  • مدرسة حي الربوة الابتدائيه - أهداف الإرشاد
    يوجد حاليا, 2 ضيف/ضيوف 0 عضو/أعضاء يتصفحون الموقع. أنت غير مسجل لدينا. ... · توجيه الطلاب وإرشادهم إسلامياُ في جميع النواحي النفسية والأخلاقية والاجتماعية ...
    www.alrbwh.com/ag/modules.php?name=News&file=article&sid=23
  • Magyar Természettudományi Múzeum - Embertani tár ...
    Növény-, állat- és embertani kiállítások, õslény- és ásványtár; kutatási és oktatási tevékenység.
    www.nhmus.hu/modules.php?name=News&file=article&sid=67
  • הקופים הירוקים - Green Apes Since 2002 - 3 שנים לקופים ...
    הקופים: 3 שנים לקופים הירוקים - החגיגות. ארגון הקופים הירוקים גאה להזמין אותכם לחגיגות 3 ... teen tits an ass h3Z zaN Online Adult Entertainment 13a nCTp [lslgw. ...
    ga2002.com/apes/modules.php?name=News&file=article&sid=159
  • feuilleTP_07.mws
    ... {PSTYLE "Normal" -1 0 1 {CSTYLE "" -1 -1 " ... 1 0 1 0 2 2 0 1 }{PSTYLE "Warning" -1 7 1 {CSTYLE "" -1 -1 " ...
    www-fourier.ujf-grenoble.fr/~panchish/UE-MAT237/...
  • -= MagicLugo =- - El Dia 2
    Comunidad Lucense De Magic! ... Digital Camera And Video Camera DZtf Yh38, best porn movie ever L16F mRGF Tyra Banks Former Boyfriend 2tQ9 FS9, busty latina porn HK8 X90h Video ...
    www.magiclugo.com/modules.php?name=News&file=article&sid=101
  • Eco & Ação: Ecologia e Responsabilidade - Atividade minerária ...
    ordem econômica nacional, fundada na valorização do trabalho humano e ... do meio ambiente, inclusive mediante tratamento diferenciado conforme o impacto ...
    ecoeacao.com.br/index.php?...&task=view&id=397&Itemid=39
  • Shitfilms.de - Chat!
    wir haben nun auch nen neuen Chat, der auf allgemeine Interesse im Forum gegründet wurde! ... Der meistgelesene Artikel zu dem Thema Info: Ed, Joe und Bill 2 - ED, ...
    www.shitfilms.de/modules.php?name=News&file=article&sid=21

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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