SHH G290D - 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 G290D

(SHH Gly290Asp)


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: 0.031 (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) ...
    www.ihop-net.org/UniPub/iHOP/gs/92150.html
  • 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) ...
    www.ihop-net.org/UniPub/iHOP/gs/88663.html
  • 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 ...
    ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=gene&...
  • 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; ...
    www.gfhev.de/abstracts_kongresse/2009Abstracts.pdf
  • 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 = 4
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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