DOK7 R120Q - 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 R120Q

(DOK7 Arg120Gln)


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 @ chr4:3494847: 12.5% (1324/10574) in EVS
  • A @ chr4:3464644: 14.6% (12/82) in GET-Evidence
  • Frequency shown in summary reports: 12.5% (1324/10574)

Publications
 

Genomes
 

 

 

 

 

 

 

 

 

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr4:3464645

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr4:3464645

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr4:3464645

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr4:3464645

 

GS18555 - var-GS18555-1100-36-ASM
hom A @ chr4:3464645

 

GS18942 - var-GS18942-1100-36-ASM
hom A @ chr4:3464645

 

GS18947 - var-GS18947-1100-36-ASM
hom A @ chr4:3464645

 

Other external references
 

    dbSNP
  • rs6831659
    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 = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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