View individual #00000013

Reference Heppner et al. (1998)
Gender M
Geographic origin -
Ethnic origin German
Remarks Member of a 3-generation family with data on 7 individuals (3 affected, 4 unaffected).
Panel size 1
Diseases NDI-AVP
Owner name LOVD


Phenotypes

Neurohypophyseal Diabetes Insipidus (NDI-AVP)   Add phenotype for this disease

AscendingPhenotype ID     

Age examined     

Phenotype details     

Inheritance     

Owner     
0000000013 - Onset of symptoms within the first year of life. Without dDAVP, fluid intake ranged between 5-to-7 litres. Familial, autosomal dominant LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000013 DNA SEQ AVP 1 LOVD



Variants

1 entry on 1 page. Showing entry 1.
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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     
20 Paternal (confirmed) g.3084619G>A g.280C>T in M11166.1 Heppner et al. (1998) AVP_000009 - - LOVD AVP +?/+ 1 NM_000490.4:c.56C>T - r.(?) p.(Ala19Val)
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