PLCE1 H1927R - GET-Evidence

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

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PLCE1 H1927R

(PLCE1 His1927Arg)

You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm by Genome Importing Robot.

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • G @ chr10:96066341: 31.8% (3214/10106) in EVS
  • G @ chr10:96056330: 39.8% (51/128) in GET-Evidence
  • Frequency shown in summary reports: 31.8% (3214/10106)



Added in this revision:





Other external references

  • Score: 0.002 (benign)
    Web search results (4 hits -- see all)
  • 文章摘要
    Mutational analysis of WT1 and PLCE1 in three Chinese families with steroid ... and PLCE1 are found, suggesting that mutation in WT1 and PLCE1 genes ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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