{{Rsnum
|rsid=104894334
|Chromosome=12
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=AQP2
|position=49954233
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=AQP2,LOC101927318
}}{{omim
|id=107777
|rsnum=104894334
|variant=0006
}}{{ClinVar
|rsid=104894334
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=50348016
|CHROM=12
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000000000002110100
|GENEINFO=AQP2:359
|GENE_NAME=AQP2
|GENE_ID=359
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.50348016G>A
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;PMC;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000019410.22; RCV000029343.1
|CLNDBN=Diabetes insipidus, nephrogenic, autosomal recessive; Nephrogenic diabetes insipidus
|CLNDSDB=MedGen:SNOMED_CT
|CLNDSDBID=C0162283:111395007
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=107777.0006
|Disease=Diabetes insipidus; Nephrogenic diabetes insipidus
}}{{PMID Auto
|PMID=9593782
|Title=Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones.
|OA=1
}}

{{PMID Auto
|PMID=10069656
|Title=Aquaporin-2 water channel mutations and nephrogenic diabetes insipidus: new variations on a theme.
}}

{{PMID Auto
|PMID=10574954
|Title=Misfolding of mutant aquaporin-2 water channels in nephrogenic diabetes insipidus.
}}

{{PMID Auto
|PMID=10770218
|Title=Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.
}}