FOXC1 Q120X - 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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(FOXC1 Gln120Stop)

Short summary


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


Insufficiently evaluated pathogenic

(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 (2 hits -- see all)
  • Unbound MEDLINE | A novel mutation in the FOXC1 gene in a ...
    Unbound MEDLINE | A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. Journal article abstract. Search by keyword, ...
  • OMIM: 601090
    The findings demonstrated that mutations in FOXC1 cause a spectrum of glaucoma phenotypes. ... the FOXC1 gene, resulting in a gln120-to-ter (Q120X) substitution ...

Other in silico analyses

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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