OMIM: 603860Inheritance: Autosomal dominant
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | UMOD |
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| Dna Change: | c.744C>G |
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| Protein Change: | p.Cys248Trp |
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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_003361.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | NA | 1 patient/1 family | NA | Wolf MT et al., 2007Wolf MT, Beck BB, Zaucke F, Kunze A, Misselwitz J, Ruley J, Ronda T, Fischer A, Eifinger F, Licht C, Otto E, Hoppe B, Hildebrandt F, . The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.. Kidney Int.. 2007; 71(6):574-81 |
References
Wolf MT, Beck BB, Zaucke F, Kunze A, Misselwitz J, Ruley J, Ronda T, Fischer A, Eifinger F, Licht C, Otto E, Hoppe B, Hildebrandt F, The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.Kidney Int.. 2007; 71(6):574-81