View screening #0000000167

Individual ID 00000166
Template DNA
Technique SEQ
Variants found? 2
Owner name LOVD


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
AQP2 aquaporin 2 12 q13.12 1 66 43 2018-06-13 NDI-AQP2



Variants found

2 entries on 1 page. Showing entries 1 - 2.
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     
12 Paternal (confirmed) g.49951128G>A - Tsutsumi et al. (2009) AQP2_000011 - Variant found in father and 2 affected children. LOVD AQP2 +?/+ 1 NM_000486.5:c.298G>A - r.(?) p.(Gly100Arg)
12 Maternal (confirmed) g.49954168C>T - Tsutsumi et al. (2009) AQP2_000023 - Variant found in mother and 2 affected children. LOVD AQP2 +?/+ 2 NM_000486.5:c.374C>T - r.(?) p.(Thr125Met)
Legend