ZNF276 W263R - GET-Evidence

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

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Curation:
Currentness:

(See the latest version)

ZNF276 W263R

(ZNF276 Trp263Arg)


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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

  • C @ chr16:89789898: 37.0% (3972/10746) in EVS
  • C @ chr16:88317398: 52.3% (67/128) in GET-Evidence
  • Frequency shown in summary reports: 37.0% (3972/10746)

Publications
 

Genomes
 

NA12878

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

snp-1

 

Added in this revision:

snp-3

 

Other external references
 

    PolyPhen-2
  • Score: 0.776 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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