View genomic variant #0000000155

Individual ID 00000148
Chromosome 12
Allele Unknown
Affects function (reported) Does not affect function
Affects function (concluded) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.49954295T>C
Published as -
Reference Boccalandro et al. (2004)
DB-ID AQP2_000006 See all 4 reported entries
Frequency -
Variant remarks None of the individuals in the NDI family had the variant. Of about 200 individuals, 30% were heterozygous and 1% was homozygous 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.501T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000148 DNA SEQ AQP2 1 LOVD