Full data view for gene AQP2

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

3 entries on 1 page. Showing entries 1 - 3.
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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     

Template     

Technique     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Remarks     

Panel size     

Owner     
+?/+ 4 c.785C>T r.(?) p.(Pro262Leu) Maternal (confirmed) g.49955577C>T - de Mattia et al. (2004) AQP2_000033 - Variant found in affected individual, mother, and maternal uncle, not found in unaffected sibling or father. DNA SEQ NDI-AQP2 de Mattia et al. (2004) M - - 3-generation family with data on one affected and 4 unaffected individuals. 1 Dr. Daniel Bichet
+?/+ 4 c.785C>T r.(?) p.(Pro262Leu) Maternal (confirmed) g.49955577C>T - de Mattia et al. (2004) AQP2_000033 - Variant found in affected individual, her mother, and maternal cousin; not found in unaffected sibling. DNA SEQ NDI-AQP2 de Mattia et al. (2004) F - - 3-generation family with data on one affected, 3 unaffected individuals. 1 Dr. Daniel Bichet
+?/+ 2 c.785C>T r.(?) p.(Pro262Leu) Maternal (confirmed) g.49955577C>T - Kuwahara (1998) AQP2_000033 - Variant found in affected child and his mother, not in father. DNA SEQ NDI-AQP2 Kuwahara (1998) M (Japan) - Nuclear family with one affected individual. 1 LOVD
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