G6PT1 G339C - GET-Evidence

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

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Currentness:

G6PT1 G339C

(G6PT1 Gly339Cys)


You are viewing the latest version of this page, saved on May 21, 2010 at 12:10am by Counsyl Test Importing Robot.

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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

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (3 hits -- see all)
  • Glycogenosis type I or von Gierke's disease
    Unlike the gene encoding G6Pase, the G6PT1. gene is expressed in many adult and fetal ... 1211delCT and G339C are the most common in. the Caucasian population, ...
    www.orpha.net/data/patho/GB/uk-glycogenosis1.pdf
  • A case of glycogen storage disease type Ib
    called as G6PT1) revealed compound heterozygous mis- sense mutations. ... whereas two mutations, namely, G339C and. 1211delCT, appear to be prevalent in Caucasian ...
    www.kjp.or.kr/ebook_upload/2009521210-20100151182951.PDF
  • Glycogénose de type I ou maladie de von Gierke
    mutation dans le gène de la protéine G6PT1. chez le malade original décrit par Nordlie, ... G339C sont les plus fréquentes dans la. population caucasienne où ...
    www.orpha.net/data/patho/FR/fr-GSD1.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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