View genomic variant #0000000157

Individual ID 00000150
Chromosome 12
Allele Both (homozygous)
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.49951041G>A
Published as GTG-to-ATG in codon 71
Reference Bichet et al. (2012)
DB-ID AQP2_000007 See all 3 reported entries
Frequency -
Variant remarks Variant found homozygous in 2 affected brothers; heterozygous in both unaffected parents and the unaffected maternal grandfather.
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 +?/+ 1 c.211G>A r.(?) p.(Val71Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000150 DNA SEQ AQP2 1 Dr. Daniel Bichet