View individual #00000148

Reference Boccalandro et al. (2004)
Gender -
Geographic origin -
Ethnic origin Hispanic
Remarks One sib from each family in town in northeast of Monterrey, Mexico was sampled (about 200 individuals).
Panel size 1
Diseases Healthy/Control
Owner name LOVD


Phenotypes

Healthy individual / control (Healthy/Control)   Add phenotype for this disease

AscendingPhenotype ID     

Age examined     

Phenotype details     

Inheritance     

Owner     
0000000174 - Individuals not affected with NDI. Familial, autosomal co-dominant. Familial LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000148 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 Unknown g.49954295T>C - Boccalandro et al. (2004) AQP2_000006 - None of the individuals in the NDI family had the variant. Of about 200 individuals, 30% were heterozygous and 1% was homozygous for the variant. LOVD AQP2 -/- 2 NM_000486.5:c.501T>C - r.(=) p.(=)
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