View genomic variant #0000000187

Individual ID 00000169
Chromosome 12
Allele Paternal (confirmed)
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.49955474A>G
Published as K228E
Reference Leduc-Nadeau et al. (2010)
DB-ID AQP2_000027
Frequency -
Variant remarks Variant found in father and 2 affected sons.
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 +?/+ 4 c.682A>G r.(?) p.(Lys228Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000170 DNA SEQ AQP2 2 Dr. Daniel Bichet