Case Report
Copyright ©The Author(s) 2022.
World J Clin Cases. Jun 16, 2022; 10(17): 5893-5898
Published online Jun 16, 2022. doi: 10.12998/wjcc.v10.i17.5893
Table 3 Genetic testing
Gene
Zone
Reference sequence
Location
cDNA level
Protein level
Status
Classification of variation
SLC12A316q13NM_000339.2Exon1c.248G>Ap.Arg83G1nHeterozygosisSuspicious pathologically
SLC12A316q13NM_000339.2Exon21c.2532G>Ap.Trp844*HeterozygosisPathological