OMIM: 168000Inheritance: Autosomal dominant
Classification: Neoplasms
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | SDHD |
|---|
| Dna Change: | c.341A>G |
|---|
| Protein Change: | p.Tyr114Cys |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Missense |
|---|
| Location: | exon 4 |
|---|
| Transcript: | NM_003002.3 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Italy | NA | Trento | 15 patients/15 families | dated between the 14th and 15th century | Schiavi F et al., 2012Schiavi F, Demattè S, Cecchini ME, Taschin E, Bobisse S, Del Piano A, Donner D, Barbareschi M, Manera V, Zovato S, Erlic Z, Savvoukidis T, Barollo S, Grego F, Trabalzini F, Amistà P, Grandi C, Branz F, Marroni F, Neumann HP, Opocher G, . The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.. J. Clin. Endocrinol. Metab.. 2012; 97(4):E637-41 |
References
Schiavi F, Demattè S, Cecchini ME, Taschin E, Bobisse S, Del Piano A, Donner D, Barbareschi M, Manera V, Zovato S, Erlic Z, Savvoukidis T, Barollo S, Grego F, Trabalzini F, Amistà P, Grandi C, Branz F, Marroni F, Neumann HP, Opocher G, The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.J. Clin. Endocrinol. Metab.. 2012; 97(4):E637-41