Gene: solute carrier family 12 (sodium/chloride transporter), member 3; SLC12A3


Gene Symbol: SLC12A3
OMIM: 600968
Chromosome location: 16q13

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Gitelman syndrome || IVS9+1G>T

Phenotype:    Gitelman syndrome
Dna Change:    IVS9+1G>T
Protein Change:   
Mutation Type:    Substitution
Mutation Effect:    Splice site
Location:    intron 9
Transcript:    NM_000339.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyGypsyNA20 patients/12 unrelated familiesNACoto E et al., 2004Coto E, Rodriguez J, Jeck N, Alvarez V, Stone R, Loris C, Rodriguez LM, Fischbach M, Seyberth HW, Santos F, . A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies.. Kidney Int.. 2004; 65(1):25-9

References

Coto E, Rodriguez J, Jeck N, Alvarez V, Stone R, Loris C, Rodriguez LM, Fischbach M, Seyberth HW, Santos F, A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies.Kidney Int.. 2004; 65(1):25-9