GRASP L91F - 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:

GRASP L91F

(GRASP Leu91Phe)


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 @ chr12:52402998: 0.8% (88/10758) in EVS
  • T @ chr12:50689264: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.8% (88/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.688 (possibly damaging)
    Web search results (2 hits -- see all)
  • The Fugitive
    CHICAGO - AERIAL - NIGHT CREDITS BEGIN OVER: Snow swirls around the tall ... CHICAGO HOTEL - BALLROOM - NIGHT THROUGH arriving guests we PICK UP the Man ...
    www.fortunecity.com/skyscraper/andreessen/28/fug.txt
  • OT/Ruddell?Apple
    Ruddell, What do you think of Apple computers?–– http://216.127.90.17/~admin1/Medium_WMP8/Noodles.wmvhttp://216.127.90.17/~admin1/Medium_WMP8/Russian_Dancer. ...
    makeupcraze.com/articles/.../1143195_OT_Ruddell-Apple.asp

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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