ARG1 R291X - 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:

ARG1 R291X

(ARG1 Arg291Stop)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    OMIM
  • Argininemia
    www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608313
    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. ...
    www.genome.jp/dbget-bin/www_bget?omim+608313

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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