CDH23 E2041K - 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 E2041K

(CDH23 Glu2041Lys)


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 @ chr10:73550969: 26.1% (2797/10736) in EVS
  • A @ chr10:73220974: 27.8% (35/126) in GET-Evidence
  • Frequency shown in summary reports: 26.1% (2797/10736)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom A @ chr10:73550969

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom A @ chr10:73550969

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom A @ chr10:73550969

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr10:73550969

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr10:73550969

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr10:73550969

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr10:73550969

 

 

hu728FFF - hu728FFF build 36 substitution variants
het A @ chr10:73220975

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr10:73550969

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr10:73550969

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr10:73550969

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr10:73550969

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr10:73550969

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom A @ chr10:73550969

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr10:73550969

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr10:73550969

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr10:73550969

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr10:73550969

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr10:73550969

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr10:73220975

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr10:73220975

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr10:73220975

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr10:73220975

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr10:73220975

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr10:73220975

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr10:73220975

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr10:73220975

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr10:73220975

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr10:73220975

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr10:73220975

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr10:73220975

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr10:73220975

 

GS19025 - var-GS19025-1100-36-ASM
hom A @ chr10:73220975

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr10:73220975

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr10:73220975

 

GS19648 - var-GS19648-1100-36-ASM
hom A @ chr10:73220975

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr10:73220975

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr10:73220975

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr10:73220975

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr10:73220975

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr10:73220975

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr10:73220975

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr10:73220975

 

Other external references
 

    dbSNP
  • rs10466026
    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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