KIF21A G614V - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

(See the latest version)

KIF21A G614V

(KIF21A Gly614Val)


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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

  • A @ chr12:39735348: 3.1% (338/10758) in EVS
  • A @ chr12:38021614: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 3.1% (338/10758)

Publications
 

Genomes
 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr12:39735348

 

Added in this revision:

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr12:39735348

 

NA12878

 

Other external references
 

    dbSNP
  • rs79089655
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the KIF21A gene
    Congenital Fibrosis of the Extraocular Muscles
    Congenital Fibrosis of the Extraocular Muscles 1
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KIF21A
    Web search results (1 hit -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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