View genomic variant #0000000189

Individual ID 00000170
Chromosome 12
Allele Maternal (confirmed)
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.49954663C>T
Published as R187C
Reference Leduc-Nadeau et al. (2010)
DB-ID AQP2_000028 See all 5 reported entries
Frequency -
Variant remarks Variant found in affected individual (II-6), her son, two siblings, and her mother; not found in 3 siblings of II-6 or her husband.
Average frequency (large NGS studies) Variant not found in online data sets
Owner Dr. Daniel Bichet




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AQP2 NM_000486.5 +?/+ 3 c.559C>T r.(?) p.(Arg187Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000171 DNA SEQ AQP2 2 Dr. Daniel Bichet