Gene Symbol: UMOD
OMIM: 191845Chromosome location: 16p12.3
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Medullary cystic kidney disease 2 |
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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 |
| Turkey | 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