PRX I921M - GET-Evidence

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

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Curation:
Currentness:

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PRX I921M

(PRX Ile921Met)


You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm by Genome Importing Robot.

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 @ chr19:40901496: 36.4% (3917/10758) in EVS
  • C @ chr19:45593335: 21.9% (28/128) in GET-Evidence
  • Frequency shown in summary reports: 36.4% (3917/10758)

Publications
 

Genomes
 

NA12878

 

Added in this revision:

NA18517

 

snp-1

 

snp-18

 

Other external references
 

    PolyPhen-2
  • Score: 0 (benign)
    Web search results (9 hits -- see all)
  • Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy
    We hypothesized that mutations in PRX could cause human peripheral ... recessive PRX mutations—two with compound heterozygous nonsense and frameshift ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Defects in periaxin associated with myelinopathies - Patent ...
    The present invention relates to defects in periaxin (PRX) associated with myelinopathies, including Charcot-Marie-Tooth syndrome and/or Dejerine-Sottas syndrome. ...
    www.freepatentsonline.com/7273698.html
  • Defects in periaxin associated with myelinopathies - Patent ...
    The present invention relates to defects in periaxin (PRX) associated with myelinopathies, including Charcot-Marie-Tooth syndrome and/or Dejerine-Sottas syndrome. ...
    www.patentgenius.com/patent/7273698.html
  • Defects in periaxin associated with myelinopathies - Patent ...
    The present invention relates to defects in periaxin (PRX) associated with myelinopathies, including Charcot-Marie-Tooth syndrome and/or Dejerine-Sottas syndrome. ...
    www.freepatentsonline.com/7537899.html
  • Inherited Peripheral Neuropathies
    last updated 17-Dec-07. Mutations in PRX. Name. c.[176T>C]+[2145T>A] ... I921M. Region. EX7. CDS. Date Added: 28-Jun-01. ID: 527. Name. c.[2787delC]+[2787delC] Alias ...
    molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?...
  • Inherited Peripheral Neuropathies
    Mutations in PRX. Name. c.306C>T. Alias. Thr102Thr. Description. Point ... I921M. Region. EX7. CDS. Date Added: 28-Jun-01. ID: 527. Name. c.[2787delC]+[2787delC] Alias ...
    molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?...

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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