View screening #0000000188

Individual ID 00000187
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 (confirmed) g.49951000A>C - Lin et al. (2002) AQP2_000042 - Variant found in father and 2 affected sons; not found in mother and 2 unaffected sons. Not found in >100 control alleles. Dr. Daniel Bichet AQP2 +?/+ 1 NM_000486.5:c.170A>C - r.(?) p.(Gln57Pro)
12 Maternal (confirmed) g.49951129G>T - Lin et al. (2002) AQP2_000043 - Variant found in mother, 2 affected sons, and 2 unaffected sons; not found in father nor in >100 control alleles. Dr. Daniel Bichet AQP2 +?/+ 1 NM_000486.5:c.299G>T - r.(?) p.(Gly100Val)
Legend