Table 2 Mutations related to GS and BS
From: A case of hypokalemia and proteinuria with a new mutation in the SLC12A3 Gene
Family member | Gene mutation | Exon | Nucleotide change | Amino acid change | Predicted Effect | HGVS ID |
|---|---|---|---|---|---|---|
Patient | SLC12A3 | 6 | c. 841 T > C | p. (Trp281Arg) | Homo, Missense | NM_000339.2 |
CLCNKA | 15 | c. 1568C > A | p. (Thr523Asn) | Het, Missense | NM_004070.3 | |
CLCNKA | 15 | c. 1551 C > G | p. (Pro517=) | Het, Synonymous | NM_004070.3 | |
Mother | SLC12A3 | 6 | c. 841 T > C | p. (Trp281Arg) | Het, Missense | NM_000339.2 |
CLCNKA | 15 | c. 1551 C > G | p. (Pro517=) | Het, Synonymous | NM_004070.3 | |
Sister | SLC12A3 | 6 | c. 841 T > C | p. (Trp281Arg) | Het, Missense | NM_000339.2 |
Brother | SLC12A3 | 6 | c. 841 T > C | p. (Trp281Arg) | Homo, Missense | NM_000339.2 |
CLCNKA | 15 | c. 1568C > A | p. (Thr523Asn) | Het, Missense | NM_004070.3 |