View genomic variant #0000000152

Individual ID 00000146
Chromosome 12
Allele Paternal (confirmed)
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.49950957_49950958del
Published as 197, 198 delCA at codon 43
Reference Tajima et al. (2003)
DB-ID AQP2_000003 See all 2 reported entries
Frequency -
Variant remarks Variant found in proband and father in heterozygous state.
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.127_128del r.(?) p.(Gln43Aspfs*63)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000146 DNA SEQ AQP2 2 LOVD