View genomic variant #0000000154

Individual ID 00000147
Chromosome 12
Allele Both (homozygous)
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.49954296G>A
Published as -
Reference Boccalandro et al. (2004)
DB-ID AQP2_000005 See all 2 reported entries
Frequency -
Variant remarks Variant was homozygous in 4 affected individuals, heterozygous in 14 unaffected individuals and not found in 7 individuals. Variant not found in 31 white and 29 Hispanic individuals from the Houston, Texas area. Sampling of one sib of each family in town (population 2078 in 2000 census) found two undiagnosed homozygous individuals (1%) and 30% heterozygous for the variant giving an estimate of 15.8% for the variant.
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     
0000000147 DNA SEQ AQP2 1 LOVD