ARG1 R291X - GET-Evidence

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

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ARG1 R291X

(ARG1 Arg291Stop)

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

  • Argininemia
    Web search results (1 hit -- see all)
  • OMIM: 608313
    Arg1 knockout mice died by 14 days of age from hyperammonenemia, while Arg2 ... mutation in the ARG1 gene, resulting in an arg291-to-ter (R291X) substitution. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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