Full data view for gene AQP2

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

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DNA change (genomic) (hg38)     

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Owner     
+?/+ 1 c.170A>C r.(?) p.(Gln57Pro) Paternal (confirmed) g.49951000A>C - Lin et al. (2002) AQP2_000042 - Variant found in father and 2 affected sons; not found in mother and 2 unaffected sons. Not found in >100 control alleles. DNA SEQ NDI-AQP2 Lin et al. (2002) M - Chinese Nuclear family with 2 affected, 2 unaffected offspring. Not known to be related to Family-2 which carries the same two AQP2 variants. 1 Dr. Daniel Bichet
+?/+ 1 c.170A>C r.(?) p.(Gln57Pro) Maternal (confirmed) g.49951000A>C - Lin et al. (2002) AQP2_000042 - Variant found in mother and two affected offspring; not found in father, unaffected offspring, or granddaughter. Not found in >100 control alleles. DNA SEQ NDI-AQP2 Lin et al. (2002) - - Chinese Data on 3-generation family with 2 affected, 1 unaffected offspring. Not known to be related to Family-1 which carries the same two AQP2 variants. 1 Dr. Daniel Bichet
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