View individual #00000164

Reference Liberatore et al. (2012)
Gender F
Geographic origin -
Ethnic origin Brazilian
Remarks Nuclear family with one affected and one unaffected child.
Panel size 1
Diseases NDI-AQP2
Owner name LOVD


Phenotypes

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

AscendingPhenotype ID     

Age examined     

Phenotype details     

Inheritance     

Owner     
0000000188 00y02m Polyuria & polydipsia soon after birth, irritable, hypernatremia, and failure to thrive. After 6 hrs of water deprivation test urine osmolality was 263 mosmol/kg; increased to 300 mosmol/kg one hr after dDAVP administration. Familial, autosomal recessive LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000165 DNA SEQ AQP2 3 LOVD



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 Unknown g.49954295T>C c.697C>G Liberatore et al. (2012) AQP2_000006 - A previously described polymorphism. LOVD AQP2 -/- 2 NM_000486.5:c.501T>C - r.(=) p.(=)
12 Maternal (confirmed) g.49954705C>T - Liberatore et al. (2012) AQP2_000020 - Variant found in mother and affected child. LOVD AQP2 +?/+ 3 NM_000486.5:c.601C>T - r.(?) p.(His201Tyr)
12 Paternal (confirmed) g.49955423G>C c.697C>G Liberatore et al. (2012) AQP2_000021 - Variant found in father and affected child. LOVD AQP2 +?/+ 4 NM_000486.5:c.631G>C - r.(?) p.(Gly211Arg)
Legend