G6PT1 G339C - GET-Evidence

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

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G6PT1 G339C

(G6PT1 Gly339Cys)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



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, ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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