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.

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Curation:
Currentness:

KIF6 R512H

(KIF6 Arg512His)


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 @ 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)

Publications
 

Genomes
 

 

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
 

    dbSNP
  • rs2273063
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • 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 ...
    www.uniprot.org/uniprot/Q6ZMV9
  • 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 ...
    www.genome.jp/dbget-bin/www_bget?uniprot+Q6ZMV9

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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