View genomic variant #0000000164

Individual ID 00000156
Chromosome 12
Allele Maternal (confirmed)
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.49954296G>A
Published as -
Reference Vargas-Poussou et al. (1997)
DB-ID AQP2_000005 See all 2 reported entries
Frequency -
Variant remarks -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AQP2 NM_000486.5 +?/+ 2 c.502G>A r.(?) p.(Val168Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000157 DNA SEQ AQP2 2 LOVD