GUSB R356X - 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.

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Curation:
Currentness:

GUSB R356X

(GUSB Arg356Stop)


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
 

    Web search results (3 hits -- see all)
  • GM00121
    ... Arg356Ter (R356X) mutation, a C>T transition that introduces a ... GUSB DEFICIENCYBETA-GLUCURONIDASE, INCLUDED; GUSB, INCLUDED. MPS VII; MPS7. MUCOPOLYSACCHARIDOSIS TYPE VII. SLY ...
    ccr.coriell.org/Sections/Search/...?Ref=GM00121&PgId=166
  • OMIM: 611499
    The GUSB gene is mutated in mucopolysaccharidosis type VII (MPS7; 253220) ... GENE STRUCTURE Miller et al. (1990) reported that the GUSB gene is 21 kb long and contains 12 exons. ...
    www.genome.jp/dbget-bin/www_bget?mim:611499

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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