View individual #00000180

Reference Kuwahara (1998)
Gender M
Geographic origin (Japan)
Ethnic origin -
Remarks Nuclear family with one affected individual.
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     
0000000204 - - Familial, autosomal recessive LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000181 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.49954672G>A - Kuwahara (1998) AQP2_000032 - Variant found in affected child and his father, not in mother. LOVD AQP2 +?/+ 1 NM_000486.5:c.568G>A - r.(?) p.(Ala190Thr)
12 Maternal (confirmed) g.49955577C>T - Kuwahara (1998) AQP2_000033 - Variant found in affected child and his mother, not in father. LOVD AQP2 +?/+ 2 NM_000486.5:c.785C>T - r.(?) p.(Pro262Leu)
Legend