Gene Symbol: VHL
OMIM: 608537Chromosome location: 3p25.3
Related informations: NCBI Gene Genome Browser UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Erythrocytosis, familial, 2 |
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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