DUOX2 H678R - GET-Evidence

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

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(DUOX2 His678Arg)

You are viewing an old version of this page that was saved on June 23, 2011 at 12:11am by Genome Importing Robot.

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

  • C @ chr15:45398438: 18.2% (1955/10758) in EVS
  • C @ chr15:43185729: 19.0% (24/126) in GET-Evidence
  • Frequency shown in summary reports: 18.2% (1955/10758)



hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr15:45398438



hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr15:45398438


hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr15:45398438



huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr15:45398438


GS10851 - var-GS10851-1100-36-ASM
het C @ chr15:43185730


GS18501 - var-GS18501-1100-36-ASM
het C @ chr15:43185730


GS18504 - var-GS18504-1100-36-ASM
het C @ chr15:43185730


GS18505 - var-GS18505-1100-36-ASM
het C @ chr15:43185730


GS18508 - var-GS18508-1100-36-ASM
hom C @ chr15:43185730


GS18517 - var-GS18517-1100-36-ASM
hom C @ chr15:43185730


GS19020 - var-GS19020-1100-36-ASM
hom C @ chr15:43185730


GS19239 - var-GS19239-1100-36-ASM
het C @ chr15:43185730


GS19240 - var-GS19240-1100-36-ASM
het C @ chr15:43185730


GS19649 - var-GS19649-1100-36-ASM
het C @ chr15:43185730


GS19669 - var-GS19669-1100-36-ASM
het C @ chr15:43185730


GS19701 - var-GS19701-1100-36-ASM
hom C @ chr15:43185730


GS19703 - var-GS19703-1100-36-ASM
het C @ chr15:43185730


GS19704 - var-GS19704-1100-36-ASM
hom C @ chr15:43185730




Deleted in this revision:



Other external references

  • rs57659670
    Web search results (7 hits -- see all)
  • Transient Congenital Hypothyroidism Caused by Biallelic ...
    Context: Mutations in dual oxidase (DUOX2) have been proposed as a cause of ... Conclusion: All eight patients had biallelic mutations in the DUOX2 gene. ...
  • Transient Congenital Hypothyroidism Caused by Biallelic ...
    Context: Mutations in dual oxidase (DUOX2) have been proposed as a cause of ... DUOX2 is located at the apical membrane of thyrocytes and is involved in the ...
  • Transient congenital hypothyroidism caused by biallelic ...
    CONTEXT: Mutations in dual oxidase (DUOX2) have been proposed as a cause of ... We find that loss of DUOX2 activity results in transient congenital ...
    We would like to advise that the text of the abstracts is authors' ... 2. O01 IDENTIFICATION OF NEW GENES INVOLVED IN THYROID DEVELOPMENT. AND DIFFERENTIATION ...
  • Figure 20.pdf
    2005), les cystéines nécessaires à la maturation du mutant porcin Duox2 ... les résidus sujets au polymorphisme (H678R, R701Q, S911L, P983A et C1052Y, ...
    stanislasmorand.free.fr/Figure 20.pdf
  • Ota, Y (Yoriko)
    Ota, Y (Yoriko) :: The relationship between telomere length and telomerase activity in ... hypothyroidism, we looked at the DUOX2 gene in patients with transient congenital ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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