SHH A384T - 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 A384T

(SHH Ala384Thr)


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)
  • 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
  • Mendelian Inheritance in Man Document Reader
    The SHH clone encodes a predicted protein 92.4% identical to its mouse homolog, while the ... in the SHH gene that resulted in an ala-to-thr substitution at codon 384 (A384T) ...
    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 = 1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in