NOS2 S608L - GET-Evidence

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

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Curation:
Currentness:

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NOS2 S608L

(NOS2 Ser608Leu)


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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

  • A @ chr17:26096597: 16.9% (1814/10758) in EVS
  • A @ chr17:23120723: 17.5% (22/126) in GET-Evidence
  • Frequency shown in summary reports: 16.9% (1814/10758)

Publications
 

Genomes
 

Added in this revision:

snp-1

 

Other external references
 

    PolyPhen-2
  • Score: 0.157 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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