View genomic variant #0000000159

Individual ID 00000152
Chromosome 12
Allele Unknown
Affects function (reported) Probably does not affect function
Affects function (concluded) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.49954295T>C
Published as TCT>TCC in codon 167
Reference Rocha et al. (1999)
DB-ID AQP2_000006 See all 4 reported entries
Frequency -
Variant remarks Variant found in proband; did not cosegregate with disease among 46 Brazilian individuals. 19 of 46 samples including affected and unaffected individuals from 3 families and unrelated normal volunteers were heterozygous for the variant, 13 individuals were homozygous for the variant (0.77 allele frequency)
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     
0000000152 DNA SEQ AQP2 1 LOVD