View individual #00000027

Reference Rittig et al. (1996)
Gender -
Geographic origin -
Ethnic origin American
Remarks -
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     
0000000027 - - Familial, autosomal dominant Mary Fujiwara



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000027 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.3083013C>A g.1883G>T in M11166.1 Rittig et al. (1996) AVP_000024 - Mutation found in 1-of-1 affected, 0-of-4 unaffecterd individuals. LOVD AVP +?/+ 2 NM_000490.4:c.286G>T - r.(?) p.(Gly96Cys)
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