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     

Protein     

Allele     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

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Technique     

Disease     

Reference     

Gender     

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Ethnic origin     

Remarks     

Panel size     

Owner     
+?/+ 2 c.374C>T r.(?) p.(Thr125Met) Maternal (confirmed) g.49954168C>T - Tsutsumi et al. (2009) AQP2_000023 - Variant found in mother and 2 affected children. DNA SEQ NDI-AQP2 Tsutsumi et al. (2009) F (Japan) - Nuclear family with 2 affected children. 1 LOVD
+?/+ 2 c.374C>T r.(?) p.(Thr125Met) Paternal (confirmed) g.49954168C>T - Goji et al. (1998);Kuwahara (1998) AQP2_000023 - Variant found in both affected children and their father, not in mother. DNA SEQ NDI-AQP2 Goji et al. (1998);Kuwahara (1998) F - Japanese Nuclear family with 2 affected offspring. 1 LOVD
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