View screening #0000000171

Individual ID 00000170
Template DNA
Technique SEQ
Variants found? 2
Owner name Dr. Daniel Bichet


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 (inferred) g.49950901T>C V24A Leduc-Nadeau et al. (2010) AQP2_000029 - Variant found in affected individual (II-6); not found in 5 siblings, her son, or her husband. Dr. Daniel Bichet AQP2 +?/+ 1 NM_000486.5:c.71T>C - r.(?) p.(Val24Ala)
12 Maternal (confirmed) g.49954663C>T R187C Leduc-Nadeau et al. (2010) AQP2_000028 - Variant found in affected individual (II-6), her son, two siblings, and her mother; not found in 3 siblings of II-6 or her husband. Dr. Daniel Bichet AQP2 +?/+ 3 NM_000486.5:c.559C>T - r.(?) p.(Arg187Cys)
Legend