| Phenotype: | Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome |
|---|---|
| Dna Change: | c.2074C>T |
| Protein Change: | p.Arg692X |
| Mutation Type: | Substitution |
| Mutation Effect: | Nonsense |
| Location: | exon 15 |
| Transcript: | NM_001127671.1 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Turkey | NA | NA | 6 patients / 4 unrelated families | NA | Yeşil G et al., 2014Yeşil G, Lebre AS, Santos SD, Güran O, Özahi II, Daire VC, Güran T, . Stuve-Wiedemann syndrome: is it underrecognized?. Am. J. Med. Genet. A. 2014; 164(9):2200-5 |
Yeşil G, Lebre AS, Santos SD, Güran O, Özahi II, Daire VC, Güran T, Stuve-Wiedemann syndrome: is it underrecognized?Am. J. Med. Genet. A. 2014; 164(9):2200-5