SGCB Y184X - 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:

SGCB Y184X

(SGCB Tyr184Stop)


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
 

    GeneTests
  • GeneTests records for the SGCB gene
    Limb-Girdle Muscular Dystrophies, Autosomal Recessive
    Sarcoglycanopathies
    Beta-Sarcoglycanopathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SGCB
    Web search results (2 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    ... sarcoglycan complex in skeletal muscle that was disrupted in Sgcb-null mice. ... found compound heterozygosity for a nonsense mutation (Y184X) inherited from ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+600900
  • OMIM: 600900
    ANIMAL MODEL Durbeej et al. (2000) engineered Sgcb-null mice to analyze the biologic role ... SGCB gene: a T-to-G transversion, resulting in a tyr184-to-ter (Y184X) nonsense ...
    www.genome.jp/dbget-bin/www_bget?omim+600900

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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