IDS K135R - 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:

IDS K135R

(IDS Lys135Arg)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.995 (probably damaging)
    Web search results (4 hits -- see all)
  • Top 10 Search Results
    brs19kts kkbrs19ktss kbbrs19ktss kbrrs19ktss kbrss19ktss kbrs119ktss ... brs22ktss krs22ktss kbs22ktss kbr22ktss kbrs2ktss kbrs2ktss kbrs22tss kbrs22kss kbrs22kts ...
    biggestsearch875.spb.ru
  • Type III 97%
    ... Reference(s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R ... Polymorphism (dbSNP:rs12428067) 17081983 IDS P22304 Q465P 464 VAR_009003 PIKK (0.935) CK1 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_97.txt
  • 14 Trh pracovní síly
    ... hybrid; mso-list-template-ids:319557356 -1231522480 67436569 67436571 67436559 ... template-ids:1762176908 67436559 67436569 67436571 67436559 67436= 569 67436571 ...
    www.regionalka.wz.cz/statnice/makro/14.mht
  • Military Archives! .::SHOW OFF YOUR MILITARY HERE::. [Archive ...
    Follow my example in this posting. Be realistic. There is no real archives of military, so put your stats here and edit them every once and a while. This is a rough ...
    forums.joltonline.com/archive/index.php/t-274359-p-4.html

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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