AGAP7 D600E - 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:

AGAP7 D600E

(AGAP7 Asp600Glu)


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 @ chr10:51464656: 39.7% (3354/8444) in EVS
  • Frequency shown in summary reports: 39.7% (3354/8444)

Publications
 

Genomes
 

 

hu34D5B9 - hu34D5B9 exome
hom C @ chr10:51464656

 

Other external references
 

    PolyPhen-2
  • Score: 0.767 (possibly damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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