||Short Stature Homeobox Gene
||Steffi Wilke, Dr. Beate Niesler, Dipl. Ing. (FH) Ralph Roeth and Prof. Gudrun Rappold
|Date of creation:
||August 01, 2006
||March 29, 2012
|Add allelic variant:
||Submit an allelic variant
|First time submitters:
|coding DNA reference sequence:
||SHOX reference sequence for describing allelic variants
|Total number of allelic variants:
|Number of unique allelic variants:
||Molecular diagnostics for the SHOX gene is carried out by Esoterix/Labcorp for North America and Bioscientia for Europe.
||This database intends to offer guidelines, whether a variant is disease-related or not.
Mutations were considered as disease causing when a) functional data showed that protein function was impaired or b) mutations affected a functional crucial domain of the protein or c) they destroyed the original open reading frame (frameshift or nonsense mutations) leading to a stop codon and to nonsense mediated mRNA decay or d) they co-segregated with short stature disorders (familial case) or e) the variant was not found in at least 100 control chromosomes. Note that in most instances 100 control chromosomes not allow a distinction between polymorphism and causative mutation.
Curators disclaim any responsability for the content of the linked websites.
The database establishment and maintenance has been supported by Eli Lilly.