DOK7 G461D - 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:

DOK7 G461D

(DOK7 Gly461Asp)


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 @ chr4:3495095: 16.0% (1642/10264) in EVS
  • A @ chr4:3464892: 12.1% (14/116) in GET-Evidence
  • Frequency shown in summary reports: 16.0% (1642/10264)

Publications
 

Genomes
 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr4:3495095

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr4:3464893

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr4:3464893

 

GS18508 - var-GS18508-1100-36-ASM
hom A @ chr4:3464893

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr4:3464893

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr4:3464893

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr4:3464893

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr4:3464893

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr4:3464893

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr4:3464893

 

Other external references
 

    dbSNP
  • rs9684786
    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
    PolyPhen-2
  • Score: 0.565 (possibly damaging)
    Web search results (1 hit -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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