View individual #00000166

Reference Tsutsumi et al. (2009)
Gender F
Geographic origin (Japan)
Ethnic origin -
Remarks Nuclear family with 2 affected children.
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     
0000000190 27y Diagnosed during the neonatal period. Referred because of pregnancy; urine output 5-10 L/Day. Basal plasma AVP 2.7 pg/ml, urine/plasma osmolality 50/280 mosmol/kg. Familial, autosomal recessive LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000167 DNA SEQ AQP2 2 LOVD



Variants

2 entries on 1 page. Showing entries 1 - 2.
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.49951128G>A - Tsutsumi et al. (2009) AQP2_000011 - Variant found in father and 2 affected children. LOVD AQP2 +?/+ 1 NM_000486.5:c.298G>A - r.(?) p.(Gly100Arg)
12 Maternal (confirmed) g.49954168C>T - Tsutsumi et al. (2009) AQP2_000023 - Variant found in mother and 2 affected children. LOVD AQP2 +?/+ 2 NM_000486.5:c.374C>T - r.(?) p.(Thr125Met)
Legend