View genomic variant #0000000161

Individual ID 00000153
Chromosome 12
Allele Both (homozygous)
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.49954233G>A
Published as GCC>ACC
Reference Pasel et al. (2000)
DB-ID AQP2_000008
Frequency -
Variant remarks One of 8 families studied; only one with AQP2 mutation, the others had AVPR2 mutations.
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.439G>A r.(?) p.(Ala147Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000154 DNA SEQ AQP2 1 LOVD