TCOF1 G1354A - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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TCOF1 G1354A

(TCOF1 Gly1354Ala)

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 (1 hit -- see all)
  • Polymorphic Mutations
    Wise et al., 1997#, Splendore et al., 2000*, Teber et al, 2004 ... G1354A. c.4292 G>C. p.Gly1431Ala. missense. Splendore et al., 2000*, Teber et al, 2004. 0.03 ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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