View individual #00000041

Reference Christensen et al. (2004)
Gender -
Geographic origin Czechoslovakia
Ethnic origin Caucasian
Remarks Member of 5-generation family with data on 3 affected and 3 unaffected individuals.
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     
0000000136 - - Familial, autosomal dominant LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000041 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.3082989A>C g.1907T>G in M11166.1 Christensen et al. (2004) AVP_000032 - Mutation found in 3-of-3 affected, 1-of-3 unaffected individuals. Not found in 296 control chromosomes. LOVD AVP +?/+ 2 NM_000490.4:c.310T>G - r.(?) p.(Cys104Gly)
Legend