GRN G515A - 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:

GRN G515A

(GRN Gly515Ala)


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 @ chr17:42429839: 1.0% (106/10758) in EVS
  • Frequency shown in summary reports: 1.0% (106/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.741 (possibly damaging)
    Web search results (1 hit -- see all)
  • AD&FTD Mutation Database
    GRN Gly515Ala Mutation Details (Table Legend) Gene. GRN. Name. g.3307G>C (relative to Met1 ... p.G515A. Region. EX12. CDS. InterDE. Notes. Corresponds to SNP rs25647 ...
    molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&...&ID=310

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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