GRN Q125X - 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!



(GRN Gln125Stop)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

    Web search results (2 hits -- see all)
  • OMIM: 138945
    ... nucleotide 373 of the GRN gene, resulting in a substitution of a termination codon for glutamine-125 (Q125X) ... WITH UBIQUITIN-POSITIVE INCLUSIONS GRN, MET1THR In an American ...
  • AD&FTD Mutation Database
    GRN Gln125X Mutation Details (Table Legend) Gene. GRN. Name. g.1087C>T (relative to Met1 in ... p.Q125X. Region. EX5. CDS. GranF. Phenotype. Frontotemporal Dementia. Mean ...

Other in silico analyses

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

Log in