View genomic variant #0000000207

Individual ID 00000181
Chromosome 12
Allele Maternal (confirmed)
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.49955513del
Published as -
Reference Kuwahara et al. (2001);Ohzeki et al. (1984)
DB-ID AQP2_000038
Frequency -
Variant remarks Variant found in 3 affected individuals; not found in unaffected mom.
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 +?/+ 4 c.721del r.(?) p.(Glu241Serfs*94)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000182 DNA SEQ AQP2 1 LOVD