Table 2 Summary of SLC12A3 variants
From: A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree
Subject | Mutation | Nucleotide Change | Predicted Effect | Exon | Location (GRCh37) |
|---|---|---|---|---|---|
Proband | p.N640S | c.1919A>G AAC-AGC | CoHet, Missense | 15 | Chromosome 16: 56,919,270 |
P.D841G | c.2522A>G GAC-GGC | CoHet, Missense | 21 | Chromosome 16: 56,926,940 | |
Mother, Younger uncle, Cousin | p.N640S | c.1919A>G AAC-AGC | Het, Missense | 15 | Chromosome 16: 56,919,270 |
Father | P.D841G | c.2522A>G GAC-GGC | Het, Missense | 21 | Chromosome 16: 56,926,940 |