GUSB W507X - GET-Evidence

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

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(GUSB Trp507Stop)

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 (3 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    ... GUSB DEFICIENCY BETA-GLUCURONIDASE, INCLUDED; GUSB, INCLUDED ... patient was a compound heterozygote of W507X (253220.0008) and a deletion at position ...
  • OMIM: 611499
    The GUSB gene is mutated in mucopolysaccharidosis type VII (MPS7; ... GUSB gene: a 38-bp deletion at position 1642-1679 in exon 10 (1642del38nt), and W507X ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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