KIF6 R512H - 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!


KIF6 R512H

(KIF6 Arg512His)

You are viewing the latest version of this page, saved on November 29, 2012 at 3:45am by Genome Importing Robot.

Short summary


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


Insufficiently evaluated not reviewed

(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

  • T @ chr6:39507889: 3.2% (348/10758) in EVS
  • T @ chr6:39615866: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 3.2% (348/10758)



Added in this revision:


GS18504 - var-GS18504-1100-36-ASM
het T @ chr6:39615867


GS18537 - var-GS18537-1100-36-ASM
het T @ chr6:39615867


GS18555 - var-GS18555-1100-36-ASM
het T @ chr6:39615867


GS18558 - var-GS18558-1100-36-ASM
het T @ chr6:39615867


GS18947 - var-GS18947-1100-36-ASM
het T @ chr6:39615867


Other external references

  • rs2273063
  • Score: 0.003 (benign)
    Web search results (2 hits -- see all)
  • Kinesin-like protein KIF6 - Homo sapiens (Human)
    ... KIF6_HUMAN Kinesin-like protein KIF6 OS=Homo sapiens GN=KIF6 PE=1 SV=3 ... like protein KIF6. Gene names. Name: KIF6. Synonyms: C6orf102. Organism ...
  • UniProt: Q6ZMV9
    AC Q6ZMV9; Q2MDE3; Q2MDE4; Q5T8J6; Q6ZWE3; Q86T87; Q8WTV4; DT 05-JUL-2005, integrated ... Kinesin-like protein KIF6; GN Name=KIF6; Synonyms=C6orf102; OS Homo ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in