View genomic variant #0000000162

Individual ID 00000154
Chromosome 12
Allele Both (homozygous)
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.49950913T>C
Published as -
Reference Shalev et al. (2004)
DB-ID AQP2_000009
Frequency -
Variant remarks -
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.83T>C r.(?) p.(Leu28Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000155 DNA SEQ AQP2 1 LOVD