PCDH15 R934Q - 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:

(See the latest version)

PCDH15 R934Q

(PCDH15 Arg934Gln)


You are viewing an old version of this page that was saved on November 29, 2012 at 4:06am by Genome Importing Robot.

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
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr10:55755491

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr10:55755491

 

Added in this revision:

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom T @ chr10:55755491

 

NA12878

 

Other external references
 

    dbSNP
  • rs2135720
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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":

Log in