CDH23 R1801Q - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

CDH23 R1801Q

(CDH23 Arg1801Gln)


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

  • A @ chr10:73544086: 13.3% (1329/10022) in EVS
  • A @ chr10:73214091: 10.9% (14/128) in GET-Evidence
  • Frequency shown in summary reports: 13.3% (1329/10022)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr10:73544086

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr10:73544086

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom A @ chr10:73544086

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr10:73544086

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr10:73544086

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr10:73544086

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr10:73544086

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr10:73544086

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr10:73544086

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr10:73544086

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr10:73544086

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr10:73214092

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr10:73214092

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr10:73214092

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr10:73214092

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr10:73214092

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr10:73214092

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr10:73214092

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr10:73214092

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr10:73214092

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr10:73214092

 

Other external references
 

    dbSNP
  • rs3802711
    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 = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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