SHH E284X - 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:

SHH E284X

(SHH Glu284Stop)


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 (4 hits -- see all)
  • OMIM: 600725
    Like its Drosophila cognate, Shh encodes a signal that is instrumental in ... The mouse, chicken, and zebrafish Shh homologs are highly conserved (Marigo et ...
    www.genome.jp/dbget-bin/www_bget?omim+600725
  • Table 2. Summary of Sequence Variations in SHH Sequence ...
    Roessler, Ward et. al 1997. 850G T E284X Nonsense. Roessler, Ward et ... hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of ...
    ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=gene&...
  • Mendelian Inheritance in Man Document Reader
    Like its Drosophila cognate, Shh encodes a signal that is instrumental in patterning the early embryo. ... in the SHH gene, resulting in a glu-to-ter change at codon 284 (E284X) ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+600725
  • UNIVERSIDADE ESTADUAL PAULISTA
    da sinalização do SHH no crescimento do processo frontonasal de galinha inibe ... resultados sugerem que mutações no gene SHH em indivíduos portadores de ...
    ibb.unesp.br/posgrad/teses/genetica_me_2008_claudia_berto...

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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