TCOF1 A1313V - 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 A1313V

(TCOF1 Ala1313Val)

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 ... A1313V. c.4169 C>T. p.Ala1390Val. missense. Edwards et al., 1997&, Splendore et al., 2000, ...

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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