G6PC G270V - GET-Evidence

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

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G6PC G270V

(G6PC Gly270Val)

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

Added in this revision:

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

  • Score: 0.999 (probably damaging)
    Web search results (2 hits -- see all)
  • Mutations in the Glucose-6-Phosphatase-α (G6PC) Gene that ...
    Glucose-6-phosphatase-α (G6PC) is a key enzyme in glucose homeostasis that ... G6PC is a highly hydrophobic glycoprotein, anchored in the membrane ...
  • EC - glucose-6-phosphatase
    G6PC. Homo sapiens. 666372. glucose 6-phosphate phosphatase. glucose 6-phosphate ... Glycogen storage disease type 1a in three siblings with the G270V mutation. ...

Other in silico analyses

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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