CDH23 R3C - GET-Evidence

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

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Curation:
Currentness:

CDH23 R3C

(CDH23 Arg3Cys)


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

  • T @ chr10:73199595: 12.3% (1247/10146) in EVS
  • T @ chr10:72869600: 18.0% (23/128) in GET-Evidence
  • Frequency shown in summary reports: 12.3% (1247/10146)

Publications
 

Genomes
 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr10:73199595

 

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr10:72869601

 

GS18501 - var-GS18501-1100-36-ASM
hom T @ chr10:72869601

 

GS18502 - var-GS18502-1100-36-ASM
hom T @ chr10:72869601

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr10:72869601

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr10:72869601

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr10:72869601

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr10:72869601

 

GS19020 - var-GS19020-1100-36-ASM
hom T @ chr10:72869601

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr10:72869601

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr10:72869601

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr10:72869601

 

GS19238 - var-GS19238-1100-36-ASM
hom T @ chr10:72869601

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr10:72869601

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr10:72869601

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr10:72869601

 

Other external references
 

    dbSNP
  • rs7902757
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the CDH23 gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    Usher Syndrome Type 1
    DFNB12 Nonsyndromic Hearing Loss and Deafness
    Usher Syndrome Type 1D
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CDH23
    Web search results (9 hits -- see all)
  • CDH23 Mutation and Phenotype Heterogeneity: A Proļ¬le of 107 ...
    Only missense mutations of CDH23 have been observed in families with ... different CDH23 mutations were detected in 45 families; 33 of these mutations ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • cadherin 23
    ... GV GD Prediction R3C 353.86 0.00 Enriched Neutral 1 D124G 0.00 93.77 Enriched ... Enriched Deleterious 2 R1060W 0.00 101.29 Enriched Deleterious 1 V1090I 223.30 ...
    www.umd.be/liens_usher/AGVGD-CDH23.txt
  • (WO/2005/005601) COMPOSITIONS AND METHODS FOR TREATING AND ...
    use the PDF version for legal matters. Compositions and Methods for Treating and ... 60/477,228 filed 06/09/03 and U. S. Provisional Application Serial no. ...
    www.wipo.int/pctdb/en/wo.jsp?IA=WO2005005601&DISPLAY=DESC
  • biotec.icb.ufmg.br
    ... beta 1 3Gal 1 4 5 P3 3-kinase 1 4 5 P3 3-kinases 1 4 5 P3 receptor 1 4 5 P3 receptors 1 4-addition 1 4 ... proteins CDF-1 CDGS CDH CDH1 CDH23 CDIR CDK CDK complexes CDK-1 CDK ...
    biotec.icb.ufmg.br/procon/prot_dictionary.txt
  • Search Medical and Societal References - esrnexus
    ESRNexus is a publicly searchable online medical and societal reference library that is ... thus suggest different fates of CDH23/Cdh23 with mutations affecting the cytoplasmic ...
    www.esrnexus.com/advsearch.aspx?txtAuthor=Inaguma

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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