SHH V332A - 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:

SHH V332A

(SHH Val332Ala)


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
 

    PolyPhen-2
  • Score: 0.675 (possibly damaging)
    Web search results (3 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
  • John Libbey Eurotext : Éditions médicales et scientifiques ...
    John Libbey Eurotext éditeur spécialisé dans le domaine médical et scientifique ... est déclenchée par la fixation de Shh sur son récepteur membranaire Patched (Ptc) ...
    john-libbey-eurotext.fr/e-docs/.../vers_alt/VersionPDF.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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