PCDHB3 T534A - 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:

PCDHB3 T534A

(PCDHB3 Thr534Ala)


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

  • G @ chr5:140481833: 1.7% (182/10754) in EVS
  • G @ chr5:140462016: 1.0% (1/104) in GET-Evidence
  • Frequency shown in summary reports: 1.7% (182/10754)

Publications
 

Genomes
 

Other external references
 

    dbSNP
  • rs13157538
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.035 (benign)
    Web search results (2 hits -- see all)
  • AceView: Gene:PCDHB3, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=PCDHB3
  • 56132
    The Arabidopsis Thaliana Transcription Factors Database,Genomic Transcription Factors Information about Arabidopsis thaliana
    okcam.cbi.pku.edu.cn/entry-info.php?id=56132

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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