View screening #0000000165

Individual ID 00000164
Template DNA
Technique SEQ
Variants found? 3
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

3 entries on 1 page. Showing entries 1 - 3.
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 Unknown g.49954295T>C c.697C>G Liberatore et al. (2012) AQP2_000006 - A previously described polymorphism. LOVD AQP2 -/- 2 NM_000486.5:c.501T>C - r.(=) p.(=)
12 Maternal (confirmed) g.49954705C>T - Liberatore et al. (2012) AQP2_000020 - Variant found in mother and affected child. LOVD AQP2 +?/+ 3 NM_000486.5:c.601C>T - r.(?) p.(His201Tyr)
12 Paternal (confirmed) g.49955423G>C c.697C>G Liberatore et al. (2012) AQP2_000021 - Variant found in father and affected child. LOVD AQP2 +?/+ 4 NM_000486.5:c.631G>C - r.(?) p.(Gly211Arg)
Legend