GJB4 E204A - GET-Evidence

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

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Curation:
Currentness:

GJB4 E204A

(GJB4 Glu204Ala)


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 @ chr1:35227466: 6.8% (728/10758) in EVS
  • C @ chr1:35000052: 8.7% (11/126) in GET-Evidence
  • Frequency shown in summary reports: 6.8% (728/10758)

Publications
 

Genomes
 

 

 

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr1:35000053

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr1:35000053

 

GS19017 - var-GS19017-1100-36-ASM
hom C @ chr1:35000053

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr1:35000053

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr1:35000053

 

GS19239 - var-GS19239-1100-36-ASM
hom C @ chr1:35000053

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr1:35000053

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr1:35000053

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr1:35000053

 

Other external references
 

    dbSNP
  • rs3738346
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (8 hits -- see all)
  • A common frameshift mutation and other variants in GJB4 ...
    We describe here the analysis of the GJB4 gene in hearing impairment patients and control subjects. ... (R103C, R124Q, R160C, C169W and E204A) in individuals that have not skin ...
    www.ncbi.nlm.nih.gov/pubmed/11933201
  • Journal of Investigative Dermatology - Clinical and Genetic ...
    The PPK, however, could be associated with homozygosity for E204A in GJB4 as the E204A allele was only seen in the control population (3/362) in heterozygosity. ...
    www.nature.com/jid/journal/v125/n5/full/5603610a.html
  • Journal of Investigative Dermatology - Genetic Heterogeneity ...
    The Journal of Investigative Dermatology publishes basic and clinical research in cutaneous biology and skin disease.
    www.nature.com/jid/journal/v120/n4/full/5601772a.html
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ ... "ú"#,##0;\-"ú"#,##0*"ú"#,##0;[Red]\-"ú"#,##0*"ú"#,##0.00;\-"ú"#,##0.00**#*"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • nuria.lopez-bigas - Publications List
    The human GJB4 gene has been deduced in silico and a mutation in a ... (R103C, R124Q, R160C, C169W and E204A) in individuals that have not skin ...
    publicationslist.org/nuria.lopez-bigas
  • A common frameshift mutation and other variants in GJB4 ...
    We describe here the analysis of the GJB4 gene in hearing impairment patients and control subjects. ... (R103C, R124Q, R160C, C169W and E204A) in individuals that have not skin ...
    www.medscape.com/medline/abstract/11933201?prt=true
  • PubMed: 11933201
    We describe here the analysis of the GJB4 gene in hearing impairment patients and control subjects. ... (R103C, R124Q, R160C, C169W and E204A) in individuals that have not skin ...
    www.genome.jp/dbget-bin/www_bget?pubmed+11933201

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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