PCDHB7 S568G - 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:

PCDHB7 S568G

(PCDHB7 Ser568Gly)


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 @ chr5:140554118: 0.6% (67/10712) in EVS
  • TG,CG @ chr5:140534300: 3.1% (2/64) in GET-Evidence
  • Frequency shown in summary reports: 0.6% (67/10712)

Publications
 

Genomes
 

hu43860C

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het TG @ chr5:140554117

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het TG @ chr5:140554117

 

GS12004 - var-GS12004-1100-36-ASM
het TG @ chr5:140534301

 

Other external references
 

    dbSNP
  • rs13189269
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (1 hit -- see all)
  • 56129
    The Arabidopsis Thaliana Transcription Factors Database,Genomic Transcription Factors Information about Arabidopsis thaliana
    okcam.cbi.pku.edu.cn/entry-info.php?id=56129

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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