OMIM: 127300Inheritance: Autosomal dominant
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | SHOX |
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| Dna Change: | c.508G>C |
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| Protein Change: | p.Ala170Pro |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 4 |
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| Transcript: | NM_000451.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | Gypsy | NA | NA | NA | Barca-Tierno V et al., 2011Barca-Tierno V, Aza-Carmona M, Barroso E, Heine-Suner D, Azmanov D, Rosell J, Ezquieta B, Montané LS, Vendrell T, Cruz J, Santos F, Rodríguez JI, Pozo J, Argente J, Kalaydjieva L, Gracía R, Campos-Barros A, Benito-Sanz S, Heath KE, . Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.. Eur. J. Hum. Genet.. 2011; 19(12):1218-25 |
References
Barca-Tierno V, Aza-Carmona M, Barroso E, Heine-Suner D, Azmanov D, Rosell J, Ezquieta B, Montané LS, Vendrell T, Cruz J, Santos F, Rodríguez JI, Pozo J, Argente J, Kalaydjieva L, Gracía R, Campos-Barros A, Benito-Sanz S, Heath KE, Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.Eur. J. Hum. Genet.. 2011; 19(12):1218-25