OMIM: 263800Inheritance: Autosomal recessive
Classification: Diseases of the genitourinary system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | SLC12A3 |
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| Dna Change: | IVS9+1G>T |
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| Protein Change: | |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Splice site |
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| Location: | intron 9 |
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| Transcript: | NM_000339.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | Gypsy | NA | 20 patients/12 unrelated families | NA | Coto E et al., 2004Coto E, Rodriguez J, Jeck N, Alvarez V, Stone R, Loris C, Rodriguez LM, Fischbach M, Seyberth HW, Santos F, . A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies.. Kidney Int.. 2004; 65(1):25-9 |
References
Coto E, Rodriguez J, Jeck N, Alvarez V, Stone R, Loris C, Rodriguez LM, Fischbach M, Seyberth HW, Santos F, A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies.Kidney Int.. 2004; 65(1):25-9