DUT E34K - 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:

DUT E34K

(DUT Glu34Lys)


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

  • A @ chr15:48623812: 0.1% (11/8342) in EVS
  • Frequency shown in summary reports: 0.1% (11/8342)

Publications
 

Genomes
 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr15:48623812

 

Other external references
 

    dbSNP
  • rs28381099
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (16 hits -- see all)
  • MSG1112138.01.txt
    060501070805060809030306 Content-Type: text/plain; charset=ISO-8859-1; format ... The latitude and longitude in the file, Rev 12635, were mis-calculated due to ...
    www.ssd.noaa.gov/PS/SATS/MESS/MSG1112138.01.txt
  • Click here to get the file
    ... 1*~8*ÄÇ#α8*ÄÇ#α8*ÄÇ#α8*ÄÇ#α8*ÄÇ#α8*ÄÇ#α8*ÄÇ#p!*H]êç·3**G*p***G*p***G*p***G*p***G ... 7X^0Φ²ÄÇ#α8*ÄÇ#α8*ÄÇ#α8*ÄÇ#α8*ÄÇ#α8*ÄÇ#α8*ÄÇ#α*Kº*G*p***G*p***G*p***G*p***G*p ...
    www.cascadeland.org/boeing_property.ppt
  • Partswebsite.mht
    If you are seeing this message, your browser or editor doesn't ... Please download a browser that supports Web Archive, such as Microsoft Internet Explorer. ...
    www.esftrailers.com/partslist/Partswebsite.mht
  • williams.edu/Chemistry/epeacock/EPL_CHEM_153/POWERPNT_DIR/...
    I<*]S½bwwXµΩ*ⁿKÅΩ*_;;P·4FÅÅ i*itbd*Yzn),cÄEâkO¥ƒEe1·SMuÅ**π |XLb=lQ'fhΓêW@uáF ... üExifMM*b****j*(****1**r*2**Åçi**ñd*d*Adobe Photoshop CS ...
    williams.edu/.../POWERPNT_DIR/10-24-05_files/10-24-05.ppt
  • zampieri27_300dpi_cmyk.eps
    ... com.apple.print.PageFormat.PMOrientationcom.apple.print.ticket.creatorcom.apple. ... 8t)l1`ZYaVV(0H7l:F&Nm6g9UcNkg_bg^h'h]DuT%k?sPp9._$J2FFi Ng9,(_=.HoKp ...
    gianluca-zampieri.com/uploads/media/...
  • Type III 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Reference(s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_97.txt
  • 名英研だより
    お使いのブラウザ、またはエディタは Web アーカイブ ファイルをサポートしていません。 Microsoft Internet Explorer など、Web アーカイブを ... Ibt2MNhchiQvQetftxrXxm8J/E34K+NL/R 9QiubiLwzcfabaGRcqdmOnbrn86 ...
    meieiken.org/tayori/17nen/%82Q.mht
  • Topica Email List Directory
    Jokes-Etc. Fw: Florida Ballot ...
    lists.topica.com/lists/RoS-Jokes-etc/read/message.html?...
  • Thanksgiving 11-28-09 12/17 - 12TurkeyRaw.JPG (6/7) - Cooking ...
    MCBKWPUMUOI=0N9)<&YV;5W$`!1S^)XKDP\%.3EV1GB+J =;+ ;P17`FD0$J, M`UQOC26YM[=K^SC5S'P%<<?C7;7I^UI*)=-N.J/)=+FU*QFFM]8M@DQ<N2IR M#GGCVJ"_TBUM+*XU-KLDSR[R)
    kitchencookingrecipes.com/forum/cooking-photos/...

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in