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©The Author(s) 2022.
World J Clin Cases. Nov 6, 2022; 10(31): 11500-11507
Published online Nov 6, 2022. doi: 10.12998/wjcc.v10.i31.11500
Published online Nov 6, 2022. doi: 10.12998/wjcc.v10.i31.11500
Table 1 Polycystic kidney disease associated genetic variants identified on this patient and one family member
| Gene name (reference transcript) | Chromosome location (GRCh37/hg19) | Nucleotide/amino acid variant | Allele genotype | Variant classification | |
| Patient | PKD1 (NM_001009944.2) | Chr16:2147934 | c.10102G>A/p.D3368N | GA | VUS |
| PKHD1 (NM_128694.3) | Chr6:51890599 | c.4009G>A/p.D1337N | GA | VUS | |
| Family member | PKD1 (NM_001009944.2) | Chr16:2147934 | c.10102G>A/p.D3368N | GA | VUS |
| PKD1 (NM_001009944.2) | Chr16:2169353 | c.242C>T/p.A81V | CT | VUS | |
| PKHD1 (NM_128694.3) | Chr6:51890599 | c.4009G>A/p.D1337N | GA | VUS |
- Citation: Zhou L, Tian Y, Ma L, Li WG. Tolvaptan ameliorated kidney function for one elderly autosomal dominant polycystic kidney disease patient: A case report. World J Clin Cases 2022; 10(31): 11500-11507
- URL: https://www.wjgnet.com/2307-8960/full/v10/i31/11500.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v10.i31.11500