Full data view for gene AQP2

Information The variants shown are described using the NM_000486.5 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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AscendingDNA change (cDNA)     

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-/- 2 c.501T>C r.(=) p.(=) Unknown g.49954295T>C - Boccalandro et al. (2004) AQP2_000006 - None of the individuals in the NDI family had the variant. Of about 200 individuals, 30% were heterozygous and 1% was homozygous for the variant. DNA SEQ Healthy/Control Boccalandro et al. (2004) - - Hispanic One sib from each family in town in northeast of Monterrey, Mexico was sampled (about 200 individuals). 1 LOVD
-?/- 2 c.501T>C r.(=) p.(=) Unknown g.49954295T>C TCT>TCC in codon 167 Rocha et al. (1999) AQP2_000006 - Variant found in proband; did not cosegregate with disease among 46 Brazilian individuals. 19 of 46 samples including affected and unaffected individuals from 3 families and unrelated normal volunteers were heterozygous for the variant, 13 individuals were homozygous for the variant (0.77 allele frequency) DNA SEQ NDI-AVPR2 Rocha et al. (1999) M - Portuguese/African/native Brazilian Member of a nuclear family with nephrogenic DI with data on 7 individuals (1 affected, 6 unaffected). 1 LOVD
-/- 2 c.501T>C r.(=) p.(=) Unknown g.49954295T>C c.697C>G Liberatore et al. (2012) AQP2_000006 - A previously described polymorphism. DNA SEQ NDI-AQP2 Liberatore et al. (2012) F - Brazilian Nuclear family with one affected and one unaffected child. 1 LOVD
-?/- 2 c.501T>C r.(=) p.(=) Paternal (confirmed) g.49954295T>C S167S Guyon et al. (2009) AQP2_000006 - Variant found in father, paternal uncle, paternal grandfather, and 3 affected children. DNA SEQ NDI-AQP2 Guyon et al. (2009) M (Canada) - 3-generation family with data on 3 affected males (including one pair of twins) and 9 unaffected individuals. 1 Dr. Daniel Bichet
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