PCDH15 R934Q - GET-Evidence

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

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Curation:
Currentness:

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PCDH15 R934Q

(PCDH15 Arg934Gln)


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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 @ chr10:55755491: 20.9% (2251/10758) in EVS
  • Frequency shown in summary reports: 20.9% (2251/10758)

Publications
 

Genomes
 

NA12878

 

NA18956

 

NA19129

 

Added in this revision:

NA19240

 

snp-18

 

Other external references
 

    GeneTests
  • GeneTests records for the PCDH15 gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    Usher Syndrome Type 1
    DFNB23 Nonsyndromic Hearing Loss and Deafness
    Usher Syndrome Type 1F
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PCDH15
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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