View individual #00000170

Reference Leduc-Nadeau et al. (2010)
Gender F
Geographic origin (Canada)
Ethnic origin -
Remarks 3-generation family with data on one affected, 8 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     
0000000194 39y Severe NDI. Presented with polyuria and polydipsia as well as dehydration episodes. Mean urine volume 14.2 L/Day; urine osmolality 106 mmol/kg H2O. Familial, autosomal recessive Dr. Daniel Bichet



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000171 DNA SEQ AQP2 2 Dr. Daniel Bichet



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 (inferred) g.49950901T>C V24A Leduc-Nadeau et al. (2010) AQP2_000029 - Variant found in affected individual (II-6); not found in 5 siblings, her son, or her husband. Dr. Daniel Bichet AQP2 +?/+ 1 NM_000486.5:c.71T>C - r.(?) p.(Val24Ala)
12 Maternal (confirmed) g.49954663C>T R187C Leduc-Nadeau et al. (2010) AQP2_000028 - Variant found in affected individual (II-6), her son, two siblings, and her mother; not found in 3 siblings of II-6 or her husband. Dr. Daniel Bichet AQP2 +?/+ 3 NM_000486.5:c.559C>T - r.(?) p.(Arg187Cys)
Legend