View screening #0000000027

Individual ID 00000027
Template DNA
Technique SEQ
Variants found? 1
Owner name LOVD


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
AVP arginine vasopressin 20 p13 1 145 87 2018-05-07 NDI-AVP



Variants found

1 entry on 1 page. Showing entry 1.
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     
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)
Legend