View individual #00000152

Reference Rocha et al. (1999)
Gender M
Geographic origin -
Ethnic origin Portuguese/African/native Brazilian
Remarks Member of a nuclear family with nephrogenic DI with data on 7 individuals (1 affected, 6 unaffected).
Panel size 1
Diseases NDI-AVPR2
Owner name LOVD


Phenotypes

Nephrogenic diabetes insipidus (NDI-AQP2)   Add phenotype for this disease

AscendingPhenotype ID     

Age examined     

Phenotype details     

Inheritance     

Owner     
0000000176 16y Presented with polyuria & polydipsia immediately after birth. Water deprivation test at 14 yr showed maximal urinary osmolality after dDAVP to be 190 mOsmol/kg with concomitant plasma AVP of 16 pg/ml. Bo response after therapeutic dDAVP trial. - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000152 DNA SEQ AQP2 1 LOVD
0000000153 DNA SEQ AVPR2 1 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 Unknown g.49954295T>C TCT>TCC in codon 167 Rocha et al. (1999) AQP2_000006 - Variant found in proband; did not cosegregate with disease among 46 Brazilian individuals. 19 of 46 samples including affected and unaffected individuals from 3 families and unrelated normal volunteers were heterozygous for the variant, 13 individuals were homozygous for the variant (0.77 allele frequency) LOVD AQP2 -?/- 2 NM_000486.5:c.501T>C - r.(=) p.(=)
X Unknown g.= Variant not detected. Rocha et al. (1999) AVPR2_000001 - Variant not found on DGGE or sequence analysis. LOVD AVPR2 ./. 1 NM_000054.4:c.= - r.(=) p.(=)
Legend