PHF11 D51Y - 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:

PHF11 D51Y

(PHF11 Asp51Tyr)


You are viewing the latest version of this page, saved on June 23, 2011 at 12:08am 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 @ chr13:48978827: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.8% (1/128)

Publications
 

Genomes
 

NA12878

 

Deleted in this revision:

NA12878

 

Other external references
 

    PolyPhen-2
  • Score: 0.872 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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