TBX4 G6A - 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:

TBX4 G6A

(TBX4 Gly6Ala)


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

  • C @ chr17:59533868: 12.1% (1293/10658) in EVS
  • C @ chr17:56888649: 13.7% (17/124) in GET-Evidence
  • Frequency shown in summary reports: 12.1% (1293/10658)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het C @ chr17:59533868

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr17:59533868

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr17:59533868

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr17:59533868

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het C @ chr17:59533868

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr17:59533868

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom C @ chr17:59533868

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr17:59533868

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr17:59533868

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr17:59533868

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr17:59533868

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr17:59533868

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr17:56888650

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr17:56888650

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr17:56888650

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr17:56888650

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr17:56888650

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr17:56888650

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chr17:56888650

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr17:56888650

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr17:56888650

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr17:56888650

 

GS19648 - var-GS19648-1100-36-ASM
hom C @ chr17:56888650

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr17:56888650

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr17:56888650

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr17:56888650

 

Other external references
 

    dbSNP
  • rs3744448
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.497 (possibly damaging)
    Web search results (20 hits -- see all)
  • Report Mutations in the Human TBX4 Gene Cause Small Patella ...
    TBX4 encodes a transcription factor with a strongly conserved DNA ... importance of TBX4 in the developmental pathways of the lower limbs and the ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • 1918 additional
    nuclear receptor subfamily 2, group E, member 3.PNR; RNR; ESCS; MGC49976. ... actin related protein 23 complex, subunit 4, 20kDa.ARC20; p20-ARC; p20-Arc; ...
    robotics.stanford.edu/~erans/.../module_274_full_genes.html
  • module_298_full_genes.html
    nuclear receptor subfamily 2, group E, member 3.PNR; RNR; ESCS; MGC49976. ... WAP four-disulfide core domain 2.HE4; WAP5; dJ461P17.6.WAP four-disulfide core ...
    robotics.stanford.edu/~erans/.../module_298_full_genes.html
  • (This file must be converted with BinHex 4.0) :"de6@#jcDA3 ...
    (This file must be converted with BinHex 4.0) :"de6@#jcDA3!8dP8090*9 ... [X6Cif&K#H$-8FG@NS'PYA4XR5H$GSCAh"QZ5X(T5ZX(H3($rd`Yb@m6fPT1 r3,CpP!TbX4*2Vp2T&e ...
    www.mediaset.co.uk/MSX.hqx
  • .txt
    ==Phrack Magazine== Volume Six, Issue Forty-Seven, File 18 of 22 Windows Background ... (Y=5BDTBSM%M]AM]Y#@',Y;!)R>G= M0?G6A<Z+)J+QW]J9!9(5!(D^;"@!@%[XQ42:C8M) ...
    www.trust-us.ch/phrack/phrack/47/P47-18
  • Type III 95%
    ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R 14 ... Polymorphism (dbSNP:rs3865205) 9920877 ST5 P78524 K316N 322 VAR_027101 STE20 (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt
  • Your New Windows Background (Part 2)
    ... face="Lucida,Verdana,Helvetica,Arial"><a href="default.htm">home</a> | <a href="about ... 1&lt;.@&amp;X`$=?4=J-]P=TCB=Y!XX%*TBX4#@BG8@4S!QRO..O6HMW0 MN/:G:PA5#%&lt;CG'I08SG)IV` ...
    www.trust-us.ch/phrack/show.php@p=47&a=18
  • CHUF - Chris Heaven Unofficial Fanclub - Blabbermouth NEWS
    Posted by Dana on Wednesday, 16 June @ 20:49:50 CEST. Alcune news sul ... naked PyOC wMmW , fergie nude j5z Tbx4 , videos of naked moms 4n9y jh4 , naked ...
    chuf.altervista.org/html/modules.php?name=News&...&sid=12
  • Streetstyle Asia - P1070562
    If you have disabled JavaScript, you must re-enable JavaScript to use ... If you want to sell wow gold, Sell LOTRO Gold, sell Lineage 2 Adena, sell ffxi ...
    streetstyleasia.com/main.php?...&g2_itemId=2181

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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