ARG1 R21X - GET-Evidence

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

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Curation:
Currentness:

ARG1 R21X

(ARG1 Arg21Stop)


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 (18 hits -- see all)
  • 3425 - Arginase Deficiency - ARG1 Sequencing - Mitochondrial ...
    It is present in 2 forms, specified by separate gene loci, ARG1 and ARG2. ... R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with ...
    www.bcm.edu/geneticlabs/tests/mito/ARG1.html
  • Results For "Hyperargininemia" - SearchMedica - Professional ...
    Cancer/Hemic Cardiovascular Diabetes/Endocrine Infectious Mental ... Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients ...
    searchmedica.com/search.do?...&p=Convera&fr=true&ds=20
  • Arginase Deficiency - Caring4Cancer
    Arginase deficiency is a rare inherited disorder characterized by ... Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients ...
    caring4cancer.com/go/community/tools/knowledgebase/...
  • CIGNA - Arginase Deficiency
    Cardoso ML, et al. Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. Hum Mutat. ...
    www.cigna.com/healthinfo/nord312.html
  • Microsoft Word - arg_ref
    Basis of Hyperargininemia: Structure-Function Consequences of Mutations in Human ... the Liver-Type Arginase Gene (ARG1) in Four Portuguese Patients with ...
    www.idph.state.ia.us/genetics/common/pdf/arg_ref.pdf
  • ARGINASE DEFICIENCY
    11. Cardoso ML, Martins E, Vasconcelos R, Vilarinho L, Rocha J. "Identification of a Novel R21X ... the Liver-Type Arginase Gene (ARG1) in Four Portuguese Patients with ...
    www.oregon.gov/DHS/ph/nbs/docs/arginase.pdf
  • The gene for human liver arginase (ARG1) is assigned to ...
    The gene for human liver arginase (ARG1) is assigned to chromosome band 6q23. ... of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1683935
  • ARGININEMIA - ARGINASE DEFICIENCY FROM MUTATION OF ARG1 GENE
    The ARG1 gene expresses itself in human liver tissues and synthesizes ... Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) ...
    clearinghouse.missouriwestern.edu/manuscripts/168.php
  • OMIM: 608313
    Arg1/Arg2 double-knockout mice exhibited the phenotype of the Arg1 knockout mice, ... a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese ...
    www.genome.jp/dbget-bin/www_bget?omim+608313
  • Références intéressantes sur l
    Cardoso, ML; Martins,E.; Vasconcelos,R.; Vilarinho,L. & Rocha-J. (1999) ... R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. ...
    www.er.uqam.ca/nobel/d341460/References/ref_argininemie.htm

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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