View individual #00000094

Reference Perrotta et al. (2015)
Gender F
Geographic origin -
Ethnic origin -
Remarks One of 9 idiopathic CDI patients tested for mutations in AVP and WFS1 genes.
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     
0000000094 - Onset at 1yr. Isolated (sporadic) LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000094 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 Unknown g.3082977C>A - Perrotta et al. (2015) AVP_000062 - De novo mutation; not found in the parents or unaffected family members; not found in 400 control chromosomes. LOVD AVP +?/+ 2 NM_000490.4:c.322G>T - r.(?) p.(Glu108*)
Legend