CDH23 F3122L - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

CDH23 F3122L

(CDH23 Phe3122Leu)


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 @ chr10:73571765: 2.6% (256/9994) in EVS
  • C @ chr10:73241770: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 2.6% (256/9994)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het C @ chr10:73571765

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr10:73571765

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr10:73571765

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr10:73571765

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr10:73571765

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr10:73571765

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr10:73571765

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr10:73571765

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr10:73571765

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr10:73241771

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr10:73241771

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr10:73241771

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr10:73241771

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr10:73241771

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr10:73241771

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr10:73241771

 

Other external references
 

    dbSNP
  • rs45583140
    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

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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