View genomic variant #0000000166

Individual ID 00000157
Chromosome 12
Allele Both (homozygous)
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.49951128G>A
Published as -
Reference Carroll et al. (2006)
DB-ID AQP2_000011 See all 2 reported entries
Frequency -
Variant remarks The 3 affected individuals were homozygous, the parents and the unaffected male were heterozygous. Variant not found in 100 control chromosomes.
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 +?/+ 1 c.298G>A r.(?) p.(Gly100Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000158 DNA SEQ AQP2 1 LOVD