View genomic variant #0000000194

Individual ID 00000172
Chromosome 12
Allele Maternal (confirmed)
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.49955438T>C
Published as -
Reference Deen et al. (1994);Deen et al. (1995)
DB-ID AQP2_000010 See all 2 reported entries
Frequency -
Variant remarks Variant found in affected individual, one sibling and mother; not found in father and 2 unaffected siblings. Not found in 4 control chromosomes.
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.646T>C r.(?) p.(Ser216Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000173 DNA SEQ AQP2 2 LOVD