DOK7 H113P - 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:

(See the latest version)

DOK7 H113P

(DOK7 His113Pro)


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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

  • C @ chr4:3494826: 14.1% (1489/10570) in EVS
  • C @ chr4:3464623: 18.3% (23/126) in GET-Evidence
  • Frequency shown in summary reports: 14.1% (1489/10570)

Publications
 

Genomes
 

Added in this revision:

 

Other external references
 

    dbSNP
  • rs6811856
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the DOK7 gene
    Congenital Myasthenic Syndromes
    DOK7-Related Congenital Myasthenic Syndrome
    DOK7-Related Fetal Akinesia Deformation Sequence
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DOK7

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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