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

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Curation:

Currentness:

KCNQ4 H455Q

(KCNQ4 His455Gln)

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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

G @ chr1:41296828: 17.4% (1872/10750) in EVS
G @ chr1:41069414: 15.6% (19/122) in GET-Evidence
Frequency shown in summary reports: 17.4% (1872/10750)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs34287852
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the KCNQ4 gene
Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant
Erythrokeratodermia Variabilis
DFNA 2 Nonsyndromic Hearing Loss
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNQ4

PolyPhen-2

Score: 0.191 (benign)

Web search results (1 hit -- see all)

AceView: Gene:KCNQ4, a comprehensive annotation of human ...
AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=kcnq4

Other in silico analyses

NBLOSUM100 score = –1
GET-Evidence autoscore = 3

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_C05 from PGP sample 42408046 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B03 from PGP sample 14427241 view
Nov 29 2012 Genome Importing Robot added CGI sample GS00253-DNA_A02_200_37 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_G03 from PGP sample 92527586 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_F02 from PGP sample 95788191 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D03 from PGP sample 27486199 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B05 from PGP sample 83494370 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B04 from PGP sample 88590671 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F06 from PGP sample 64191565 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B02 from PGP sample 94378523 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_A07 from PGP sample 96240009 view
Jun 23 2011 Genome Importing Robot removed [NA18956] view
Jun 23 2011 Genome Importing Robot removed [NA12878] view
Jun 23 2011 Genome Importing Robot removed James D. Watson view
Jun 22 2011 Genome Importing Robot removed Stephen Quake view
Mar 29 2011 Genome Importing Robot added var-GS19701-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19649-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18956-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS06985-1100-36-ASM view
Dec 6 2010 Genome Importing Robot removed CGI sample GS00253-DNA_A02_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_E01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_C01_200_37 view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_B02_200_37 view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_H01_200_37 view
May 8 2010 Genome Importing Robot added CGI sample GS00253-DNA_A02_200_37 view
Dec 27 2009 Genome Importing Robot added Stephen Quake view
Dec 27 2009 Genome Importing Robot added [NA18956] view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added James D. Watson view
Dec 27 2009 Genome Importing Robot added variant view

KCNQ4 H455Q - GET-Evidence