View genomic variant #0000000202

Individual ID 00000178
Chromosome 12
Allele Both (homozygous)
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.49954163del
Published as -
Reference van Lieburg et al. (1994);Deen et al. (1995)
DB-ID AQP2_000036
Frequency -
Variant remarks Variant found in affected individual, 3-of-4 unaffected siblings, and in both parents.
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.369del r.(?) p.(Asn123Lysfs*9)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000179 DNA SEQ AQP2 1 LOVD