DUOX2 H678R - GET-Evidence

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

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Curation:
Currentness:

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DUOX2 H678R

(DUOX2 His678Arg)


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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 @ 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)

Publications
 

Genomes
 

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

 

Added in this revision:

 

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

 

NA18507

 

NA18517

 

NA19240

 

snp-2

 

snp-26

 

snp-27

 

snp-28

 

snp-29

 

snp-30

 

snp-31

 

snp-32

 

snp-6

 

Other external references
 

    dbSNP
  • rs57659670
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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. ...
    jcem.endojournals.org/cgi/content/abstract/93/11/4261
  • 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 ...
    jcem.endojournals.org/cgi/content/full/93/11/4261
  • 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 ...
    www.ncbi.nlm.nih.gov/pubmed/18765513
  • ABSTRACT BOOK
    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 ...
    www.hotthyroidology.com/downloads/abstractbook.pdf
  • 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 ...
    lib.bioinfo.pl/auid:3851468

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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