©The Author(s) 2019.
World J Clin Cases. Jun 26, 2019; 7(12): 1522-1528
Published online Jun 26, 2019. doi: 10.12998/wjcc.v7.i12.1522
Published online Jun 26, 2019. doi: 10.12998/wjcc.v7.i12.1522
Table 2 Candidate genes
| Type | Information |
| Gene | SLC12A3 |
| RNA | NM_000339 |
| Exon | exon22 |
| DNA mutation | G2582A |
| AA mutation | R861H |
| Mutation frequency | 50% |
| Population frequency | Unknown |
| Polyphen2_HDIV | D, D, D |
| FATHMM | D |
| MutationTaster | D |
| MutationAssessor | L |
| LRT | D |
| SIFT | T |
- Citation: Wang CL. Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report. World J Clin Cases 2019; 7(12): 1522-1528
- URL: https://www.wjgnet.com/2307-8960/full/v7/i12/1522.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v7.i12.1522