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!



(IDS Lys135Arg)

Short summary


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


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • 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 ...
  • 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 ...
  • 14 Trh pracovní síly
    ... hybrid; mso-list-template-ids:319557356 -1231522480 67436569 67436571 67436559 ... template-ids:1762176908 67436559 67436569 67436571 67436559 67436= 569 67436571 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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