OMIM: 263400Inheritance: Autosomal recessive
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | VHL |
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| Dna Change: | c.598C>T |
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| Protein Change: | p.Arg200Trp |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 3 |
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| Transcript: | NM_000551.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Ischia in the Bay of Naples | 14 patients/22 patients | NA | Perrotta S et al., 2006Perrotta S, Nobili B, Ferraro M, Migliaccio C, Borriello A, Cucciolla V, Martinelli V, Rossi F, Punzo F, Cirillo P, Parisi G, Zappia V, Rotoli B, Della Ragione F, . Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.. Blood. 2006; 107(2):514-9 |
References
Perrotta S, Nobili B, Ferraro M, Migliaccio C, Borriello A, Cucciolla V, Martinelli V, Rossi F, Punzo F, Cirillo P, Parisi G, Zappia V, Rotoli B, Della Ragione F, Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.Blood. 2006; 107(2):514-9