G6PC G270V - GET-Evidence

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

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Curation:
Currentness:

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 -
 

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
 

    PolyPhen-2
  • 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 ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2475600
  • EC 3.1.3.9 - 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. ...
    brenda-enzymes.org/php/...&OrganismID=247&ShowAll=True

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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