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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Curation:
Currentness:

FOXC1 Q120X

(FOXC1 Gln120Stop)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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
 

    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, ...
    unboundmedicine.com/medline/ebm/record/18498376/abstract/...
  • 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 ...
    www.genome.jp/dbget-bin/www_bget?omim+601090

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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