ZNF880 Y150C - 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:

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ZNF880 Y150C

(ZNF880 Tyr150Cys)


You are viewing an old version of this page that was saved on November 29, 2012 at 2:10am 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

  • G @ chr19:52887282: 16.5% (533/3234) in EVS
  • Frequency shown in summary reports: 16.5% (533/3234)

Publications
 

Genomes
 

 

Added in this revision:

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr19:52887282

 

Other external references
 

    dbSNP
  • rs324125
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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