View individual #00000168

Reference Guyon et al. (2009)
Gender M
Geographic origin (Canada)
Ethnic origin -
Remarks 3-generation family with data on 3 affected males (including one pair of twins) and 9 unaffected individuals.
Panel size 1
Diseases NDI-AQP2
Owner name Dr. Daniel Bichet


Phenotypes

Nephrogenic diabetes insipidus (NDI-AQP2)   Add phenotype for this disease

AscendingPhenotype ID     

Age examined     

Phenotype details     

Inheritance     

Owner     
0000000192 - Three severely affected boys with polyuria, low urine osmolality 77 mmol/kg water, and lack of response to dDAVP administration. Familial, autosomal recessive Dr. Daniel Bichet



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000169 DNA SEQ AQP2 3 Dr. Daniel Bichet



Variants

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

Chr     

Allele     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Owner     

Gene     

Effect     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     
12 Paternal (confirmed) g.49954244T>A D150E Guyon et al. (2009) AQP2_000024 - Variant found in father, paternal uncle, paternal grandfather, and all 3 affected children. Dr. Daniel Bichet AQP2 +?/+ 2 NM_000486.5:c.450T>A - r.(?) p.(Asp150Glu)
12 Paternal (confirmed) g.49954295T>C S167S Guyon et al. (2009) AQP2_000006 - Variant found in father, paternal uncle, paternal grandfather, and 3 affected children. Dr. Daniel Bichet AQP2 -?/- 2 NM_000486.5:c.501T>C - r.(=) p.(=)
12 Maternal (confirmed) g.49954691G>A G196D Guyon et al. (2009) AQP2_000026 - Variant found in mother, maternal grandmother, and 3 affected children. Dr. Daniel Bichet AQP2 +?/+ 3 NM_000486.5:c.587G>A - r.(?) p.(Gly196Asp)
Legend