View individual #00000175

Reference de Mattia et al. (2005)
Gender M
Geographic origin (Netherlands)
Ethnic origin -
Remarks Nuclear family with one affected offspring with deceased affected father.
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     
0000000199 51y Polyuria & polydipsia within the first year of life. Diagnosed at 12 yr; at that time urine volume 4.2-7.9 L/day (87-163 ml/kg H2O). With treatment water intake 1.5-3 L/Day. Familial, autosomal dominant LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000176 DNA SEQ AQP2 1 LOVD



Variants

1 entry on 1 page. Showing entry 1.
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 (inferred) g.49955553G>T - de Mattia et al. (2005) AQP2_000034 - Variant found in affected individual; not in mother, father not tested. Not found in >160 control chromosomes. LOVD AQP2 +?/+ 4 NM_000486.5:c.761G>T - r.(?) p.(Arg254Leu)
Legend