HFE E168Q - GET-Evidence

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

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Curation:
Currentness:

HFE E168Q

(HFE Glu168Gln)


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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

  • C @ chr6:26091703: 0.0% (3/10758) in EVS
  • Frequency shown in summary reports: 0.0% (3/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.853 (probably damaging)
    Web search results (71 hits -- see all)
  • 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
  • Analysis of HFE and TFR2 mutations in selected blood donors ...
    Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload ... One rare HFE allele (E168Q), but no TFR2 mutation was detected. ...
    www.haematologica.org/cgi/content/abstract/88/4/396
  • Clinics - Analysis of HFE and non-HFE gene mutations in ...
    Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis ... HFE gene, which are V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, ...
    scielo.br/scielo.php?...&lng=en&nrm=iso&tlng=en
  • 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
  • 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
  • Haemochromatosis StripAssay A
    HFE E168Q. mutant. HFE E168X. mutant. HFE W169X. mutant. HFE C282Y. mutant ... HFE: E168Q, E168X, W169X. 25. HFE: codon 282 bis 283. HFE: C282Y, Q283P. 26. TFR2: codon 60 ...
    www.amplitech.net/PDF/4220-Description 2004-05.pdf
  • Iron overload in kidney transplants: Prospective analysis of ...
    patients were compound heterozygous for HFE C282Y/H63D. ... in the HFE gene, including V53M, V59M, H63D, H63H, S65C, Q127H, E168Q, E168X, W169X, ...
    www.idpas.org/pdf/4196.pdf
  • Haemochromatosis StripAssay D
    HFE Q127H. mutant. HFE E168Q. mutant. HFE E168X. mutant. HFE W169X. mutant. HFE C282Y. mutant ... wild type. HFE codon. 53. wild type. HFE codon. 59. wild type. HFE codon ...
    www.amplitech.net/PDF/4200-Description 2004-12.pdf
  • Analysis of HFE and TFR2 mutations in selected blood donors ...
    and H63D mutations in the HFE gene, but additional HFE. and TFR2 mutations have been ... Except for H63D, S65C, E168Q and. C282Y, no other HFE or TFR2 mutation was detect ...
    www.haematologica.org/cgi/reprint/88/4/396.pdf
  • glossar:HFE [H√§mochromatose]
    201) weitere seltene oder seltenere (hämochromatose-)relevante Mutationen bekannt: HFE S65C, HFE E168Q, HFE V53M, HFE V59M, HFE H63H, HFE Q127H, HFE P160delC u.a. ...
    haemochromatose-forum.de/wiki-glossar/...?id=glossar:HFE

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

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