HFE E168X - GET-Evidence

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

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Curation:
Currentness:

HFE E168X

(HFE Glu168Stop)


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
 

    Web search results (134 hits -- see all)
  • Prevalence of C282Y and E168X HFE mutations in an Italian ...
    Prevalence of C282Y and E168X HFE mutations in an Italian population of ... Two nonsense HFE mutations (E168X and. W169X) were found in the compound heterozygous ...
    www.haematologica.org/cgi/reprint/88/3/250.pdf
  • Prevalence of C282Y and E168X HFE mutations in an Italian ...
    Prevalence of C282Y and E168X HFE mutations in an Italian population of Northern European ancestry ... The prevalence of E168X in this region, although low, suggests that ...
    www.haematologica.org/cgi/content/abstract/88/3/250
  • Clinics - Analysis of HFE and non-HFE gene mutations in ...
    Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis ... Rare HFE mutations, such as S65C, E168X, W169X and Q238P, have been ...
    scielo.br/scielo.php?...&lng=en&nrm=iso&tlng=en
  • Analysis of HFE and non-HFE gene mutations in Brazilian ...
    Other mutations have been described in the HFE gene as well as in genes involved ... HFE mutations, which are V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, ...
    www.infodoctor.org:8080/uid=19759876
  • Complete Scanning of the Hereditary Hemochromatosis Gene (HFE ...
    The HFE coding region from some of these HC probands has been studied, ... Italian regions (E168X and W169X) (18)(23). Moreover, one HFE missense mutation (Q127H) ...
    www.clinchem.org/cgi/content/full/47/9/1633
  • Haemochromatosis
    The assay covers 11 mutations in the HFE gene (V53M, V59M, ... HFE. H63H. mutant. HFE. S65C. mutant. HFE. Q127H. mutant. HFE. E168Q. mutant. HFE. E168X. mutant. HFE ...
    www.viennalab.com/pdf/4220.pdf.old
  • Iron overload in kidney transplants: Prospective analysis of ...
    patients were compound heterozygous for HFE C282Y/H63D. ... the HFE gene, including V53M, V59M, H63D, H63H, S65C, Q127H, E168Q, E168X, W169X, C282Y, ...
    www.idpas.org/pdf/4196.pdf
  • Haemochromatosis
    The assay covers 12 mutations in the HFE gene (V53M, V59M, ... HFE. S65C. mutant. HFE. Q127H. mutant. HFE. P160delC. mutant. HFE. E168Q. mutant. HFE. E168X. mutant ...
    www.viennalab.com/pdf/4220.pdf
  • glossar:Gentest [Hämochromatose]
    Manchmal werden beim gängigen Gentest zusätzlich auch die HFE-Mutationen S65C und E168X bestimmt. ... HFE E168X sowie HFE E168Q, HFE V53M, HFE V59M, HFE H63H, HFE Q127H, ...
    haemochromatose-forum.de/wiki-glossar/doku.php?...
  • BioMed Central | Full text | Prevalence of H63D, S65C and ...
    A number of different HFE mutations have been reported so far. The ... A: Prevalence of C282Y and E168X HFE mutations in an Italian population of ...
    www.biomedcentral.com/1471-2350/8/69

Other in silico analyses
 

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

Edit history
 

Gene search

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