View genomic variant #0000000184

Individual ID 00000168
Chromosome 12
Allele Paternal (confirmed)
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.49954244T>A
Published as D150E
Reference Guyon et al. (2009)
DB-ID AQP2_000024 See all 2 reported entries
Frequency -
Variant remarks Variant found in father, paternal uncle, paternal grandfather, and all 3 affected children.
Average frequency (large NGS studies) Variant not found in online data sets
Owner Dr. Daniel Bichet




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AQP2 NM_000486.5 +?/+ 2 c.450T>A r.(?) p.(Asp150Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000169 DNA SEQ AQP2 3 Dr. Daniel Bichet