SHH G290D - GET-Evidence

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

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(SHH Gly290Asp)

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

  • Score: 0.031 (benign)
    Web search results (7 hits -- see all)
  • SHH - sonic hedgehog homolog (Drosophila)
    The emergent design of the neural tube: prepattern, SHH morphogen and GLI code. ... A1039A) and four SHH mutation/variants (IVS1-49C>T, IVS2+111A>C, L214L, G290D) ...
  • GLI3 - GLI family zinc finger 3
    A SHH-independent regulation of Gli3 is a significant determinant of anteroposterior ... and four SHH mutation/variants (IVS1-49C>T, IVS2+111A>C, L214L, G290D) ...
  • Table 2. Summary of Sequence Variations in SHH Sequence ...
    869G A G290D Missense. Nanni et al 1999. 1283-1291 del. 378-380 del ... hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of ...
  • Topics
    report of mutations in SIX3 and SHH. Hehr U. 1,2 , Uyanik G. 3 , ... mutations in SIX3 (E129X and G37C) and SHH (G290D) in two patients and one fetus with SCH; ...
    da sinalização do SHH no crescimento do processo frontonasal de galinha inibe ... resultados sugerem que mutações no gene SHH em indivíduos portadores de ...

Other in silico analyses

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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