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

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Curation:

Currentness:

(See the latest version)

DUOX2 H678R

(DUOX2 His678Arg)

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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.)

unknown

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

Added in this revision:

Other external references

dbSNP

rs57659670
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the DUOX2 gene
DUOX2-Related Congenital Hypothyroidism
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DUOX2

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

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_H05 from PGP sample 10971581 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_A04 from PGP sample 08188426 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_G02 from PGP sample 67180598 view
Nov 29 2012 Genome Importing Robot added hu34D5B9 exome view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B02 from PGP sample 94378523 view
Jun 23 2011 Genome Importing Robot removed [NA18517] view
Jun 23 2011 Genome Importing Robot removed [NA18507] view
Jun 22 2011 Genome Importing Robot removed Stephen Quake view
Jun 22 2011 Genome Importing Robot removed [NA19240] view
Jun 22 2011 Genome Importing Robot removed D#kgao view
Jun 22 2011 Genome Importing Robot removed G/aq'o view
Jun 22 2011 Genome Importing Robot removed !Gubi view
Jun 22 2011 Genome Importing Robot removed Desmond Tutu view
Jun 22 2011 Genome Importing Robot removed !Ai view
Jun 22 2011 Genome Importing Robot removed [snp-2] view
Mar 29 2011 Genome Importing Robot added var-GS19704-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19703-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19701-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19669-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19649-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19240-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19239-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19020-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18517-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18508-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS10851-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18501-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18504-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18505-1100-36-ASM view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Jr. view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Sr. view
Dec 6 2010 Genome Importing Robot added hu3215A7 build 36 substitution variants view
Dec 6 2010 Genome Importing Robot added hu728FFF build 36 substitution variants view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_F01_200_37 view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_B02_200_37 view
May 12 2010 Genome Importing Robot added Henry Louis Gates Jr. view
Feb 27 2010 Genome Importing Robot added !Gubi view
Feb 27 2010 Genome Importing Robot added Desmond Tutu view
Feb 27 2010 Genome Importing Robot added G/aq'o view
Feb 27 2010 Genome Importing Robot added D#kgao view
Feb 27 2010 Genome Importing Robot added !Ai view
Feb 26 2010 Genome Importing Robot added CGI sample GS00253-DNA_D01_200_37 view
Feb 17 2010 Genome Importing Robot added Henry Louis Gates Sr. view
Dec 27 2009 Genome Importing Robot added CGI sample GS00253-DNA_A01_200_37 view
Dec 27 2009 Genome Importing Robot added Stephen Quake view
Dec 27 2009 Genome Importing Robot added [NA18507] view
Dec 27 2009 Genome Importing Robot added [NA19240] view
Dec 27 2009 Genome Importing Robot added [NA18517] view
Dec 27 2009 Genome Importing Robot added [snp-2] view
Dec 27 2009 Genome Importing Robot added variant view

DUOX2 H678R - GET-Evidence