DCD D71N - 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:

DCD D71N

(DCD Asp71Asn)


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 @ chr12:55039035: 0.5% (55/10758) in EVS
  • T @ chr12:53325301: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.5% (55/10758)

Publications
 

Genomes
 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr12:53325302

 

Other external references
 

    dbSNP
  • rs36031159
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (9 hits -- see all)
  • livingston.nac.net/pub/le/upgrades/or_3.7.2Lc5
    ... Master Operating System Upgrade - Release 3.7.2c5 # file pmoOS M'YV ... <%P.13!DT+X/?MCMXAFPD1T :)8,+HPN M36*XQ!@[_A$9S9S-:JQ2^8QF#^H0Z)"P'H1: ...
    livingston.nac.net/pub/le/upgrades/or_3.7.2Lc5
  • 桃園縣勞工退休新制意見調查統計報告
    ... Ü*¢*£*¥*₧*L!M!N!O!P!#*$*$*$*$t&&&&&&R)ñ)Ñ)ª)º)¿)R,S,T,U,V,ß.Γ.π.Σ.σ. ... 1₧₧0*ƒaÜxµóâæáµó*ÜP*P*î*î*î*î*µó<*ÜX*ooçÆoooooW₧W₧P*P*$9t>ñ*#ÆdP*P*t>***Ch*W#~Rσ] ...
    tycg.gov.tw/files/014/本府勞退新制問卷調查結 ...
  • DCD Gene - GeneCards | DCD Protein | DCD Antibody
    Function: DCD-1 displays antimicrobial activity thereby limiting skin infection by ... DCD Gene in genomic location: bands according to Ensembl, locations ...
    genecards.org/cgi-bin/carddisp.pl?gene=DCD&...&snp=44
  • PDP-10 Archive: 10,7/703mon/common.mac from ...
    CONTEXT MAP POINTER > EXP <PM.DCD>B2+PM.WRT+PM.CSH+.E'N'MAP/PAGSIZ IFN M.KS10, ... OF THE NULL JOB'S MAP DEFINE ONE41,< EXP <PM.DCD>B2+PM.WRT+PM.PUB+ZZ ZZ==ZZ+1 > ...
    pdp-10.trailing-edge.com/.../01/10,7/703mon/common.mac.html
  • MATRIX2.016
    FORMAT : 86 VERSION: 9 HDRBLKS: 15 TYPE :Scan frame SITE :Indiana University ... LONGORD: 0 TARGET :MO SOURCEK: 50.0000000 SOURCEM: 40.0000000 FILTER :Parallel, ...
    cima1.uits.iupui.edu/cima/iumsc_frames/06069/MATRIX2.016
  • WWW-NNTP 0.0.0.1 @ news.hkux.net - balamix.pro - SOURCE 104914
    news.hkux.net > balamix.pro > 104914. From: wowo<wowo@wowo.com> Newsgroups: balamix.pro ... 45%0P/%Q@6%!@2%!44_]L`0P$#!`0%!`4)!04)%`T+#104%!04%!04 M%!04%!04%!04 ...
    www.nntp.hk/web/source,news.hkux.net,balamix.pro,104914.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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