NUB1 K4N - 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:

NUB1 K4N

(NUB1 Lys4Asn)


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 @ chr7:151042447: 0.8% (73/9490) in EVS
  • Frequency shown in summary reports: 0.8% (73/9490)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.88 (probably damaging)
    Web search results (9 hits -- see all)
  • Project Overview
    456789:CDEFGHIJSTUVWXYZcdefghijstuvwxyzâäàåçêëèÆôöòûùÿÖÜóúñѪº¿¬ßΓπΣσµτΦΘΩ ... 4ß%±****&'()*56789:CDEFGHIJSTUVWXYZcdefghijstuvwxyzéâäàåçêëèÆôöòûùÿÖÜóúñѪº ...
    pricip.org/ws alpha meetings/.../October PIT.ppt
  • *αí*ß>* *¬1;**T**¡4**4*4*4*4*4*4*4*4*4*4*4*4*4*4*4...
    5**5**5**5**5**5**5**5**5**5**5**5**5**5**5**5**5**5**5* 5*!5*"5*#5 ... iç***Ñ**Σ* SONYDSC-H1H*H*2005:10:22 11:45:42PrintIM0300*Üé**n*¥é**v*"ê***'ê**}É ...
    www.region10.org/SSVI/documents/SportsExtravaganza05.ppt
  • 31
    ... æD+Gï`ë |Bo\K4Ñ fxT ecaÙ0"¼ ¡dü¦ù q·H†ÆS"ã) œ' ̃R qŠ±ö§®ƒâ" ØXŽ°A°: 5æ ó¢îhÐö® GŽÑ<"(gš Ó|JŸ`a"#Õùû°¶T^Úª¥"_ʶ... K|e±+ –ÐÆVð±n"²ë"  .Ó ...
    www.ifm.org.br/fase1/media/congresso/texto/31
  • Modeling information flow in emergency response
    456789:CDEFGHIJSTUVWXYZcdefghijstuvwxyzâäàåçêëèÆôöòûùÿÖÜóúñѪº¿¬ßΓπΣσµτΦΘΩ ... 4ß%±****&'()*556789:CDEFGHIJSTUVWXYZcdefghijstuvwxyzéâäàåçêëèÆôöòûùÿÖÜóúñѪº ...
    cs.rpi.edu/~isler/teaching/spring06/presentations/zhou.ppt
  • Background
    ûƒ&u*5¼Äâ*uÇî¬IV2!ûƒ¼RQ*b¡}σ9½½^*ù5åá6£ö<:6Sèü*ïâ Åp*k4N*Ö^ofδì6¿*·oXN3é*ÜÆαΣΩZ\gaêΩ\h ...
    ushbc.org/presentations/all about blueberries-sound-compr...
  • "数学文化"课课件2
    Ä*ÄÄ*ÄáF*t;ì²£\ökÉ÷%.0ÿ* α*JFIF***,*, *LEAD Technologies Inc. ... WßwI~&xvπRx*Γ7àçW¢JçD°ƒß°]^φcHKdÜR fææYèû1k4N*ÄO*#π*φ/ºα}"ïΓCZⁿo¬¡å~*°+ZèY8R ...
    www.math.nankai.edu.cn/jpkc/sxwh/doc/kj/07_Kj_2.ppt
  • xmms-singit_0.1.18-1_s390.deb
    ... h/筆_ 8_ $c昐_ 皊_ 贐_ _ 6_ 餬/詭鄅炩" 橗K ,蚻洐_ 咔 Ax_ 醫V駤誚斖龔揹_ 愜_ 妮 )仲\rヸ蒔棯 _ 0_ 6F_ _ 6U ... 8 _ _ 畾 <写8-r麯靁_ +_ 樼橐闒:> M_ L_ Van4馽_ <(沢 B 8庮0鈿}挳鑑侅3X 筯迠杢j Xt憖_ +槸鼰 ...
    ftp.ncku.edu.tw/Linux/Debian/debian/pool/main/x/...
  • wMH3Ç rà1UàD3Ç ràO.b" éèb$
    W???O?K4Ñ l!ÇèÒ l?4 ÈuM?'U! ÑUA92 ÁÇd?=B3Ç j'èè ÉÑèU?3Ç WIDM0 ®ÑÇÑÏÃè ... W7ÄÑ Ïu$è Çb2R4 ¬ÖÑUF?:4 ÑuB1 äš& Ïu?$u3 çd?7d?9" äèU?% Q?D&è W?H? ...
    www.el-massa.com/ar/pdf/2010/02_10/Massa15_02_10.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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