OMIM: 614809Inheritance: Autosomal dominant
Classification: Diseases of the genitourinary system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | CFHR5 |
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| Dna Change: | duplication of exons 2 and 3 |
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| Protein Change: | duplication of SCR domains 1 and 2 |
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| Mutation Type: | Duplication |
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| Mutation Effect: | |
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| Location: | exons 2 and 3 |
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| Transcript: | NM_030787.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Cyprus | NA | NA | 26 patients / 11 unrelated families | NA | Gale DP et al., 2010Gale DP, de Jorge EG, Cook HT, Martinez-Barricarte R, Hadjisavvas A, McLean AG, Pusey CD, Pierides A, Kyriacou K, Athanasiou Y, Voskarides K, Deltas C, Palmer A, Frémeaux-Bacchi V, de Cordoba SR, Maxwell PH, Pickering MC, . Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.. Lancet. 2010; 376(9743):794-801 |
References
Gale DP, de Jorge EG, Cook HT, Martinez-Barricarte R, Hadjisavvas A, McLean AG, Pusey CD, Pierides A, Kyriacou K, Athanasiou Y, Voskarides K, Deltas C, Palmer A, Frémeaux-Bacchi V, de Cordoba SR, Maxwell PH, Pickering MC, Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.Lancet. 2010; 376(9743):794-801