View individual #00000187

Reference Lin et al. (2002)
Gender M
Geographic origin -
Ethnic origin Chinese
Remarks Nuclear family with 2 affected, 2 unaffected offspring. Not known to be related to Family-2 which carries the same two AQP2 variants.
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     
0000000211 - Two affected males 23 & 20 yrs; age at first symptoms 1 month/2 weeks; frequent bedwetting, fever, polyuria, & polyps since childhood; urine volume 16/15 Litres; urine osmolality 50/45 mosmol/kg. No increase in urine osmolality after dDAVP administration. Familial, autosomal recessive Dr. Daniel Bichet



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000188 DNA SEQ AQP2 2 Dr. Daniel Bichet



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

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Variant remarks     

Owner     

Gene     

Effect     

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DNA change (cDNA)     

Published as     

RNA change     

Protein     
12 Paternal (confirmed) g.49951000A>C - Lin et al. (2002) AQP2_000042 - Variant found in father and 2 affected sons; not found in mother and 2 unaffected sons. Not found in >100 control alleles. Dr. Daniel Bichet AQP2 +?/+ 1 NM_000486.5:c.170A>C - r.(?) p.(Gln57Pro)
12 Maternal (confirmed) g.49951129G>T - Lin et al. (2002) AQP2_000043 - Variant found in mother, 2 affected sons, and 2 unaffected sons; not found in father nor in >100 control alleles. Dr. Daniel Bichet AQP2 +?/+ 1 NM_000486.5:c.299G>T - r.(?) p.(Gly100Val)
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