Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report

doi:10.12998/wjcc.v7.i12.1522

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Jun 26, 2019 (publication date) through Nov 4, 2024

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World Journal of Clinical Cases

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2307-8960

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Clin Cases. Jun 26, 2019; 7(12): 1522-1528
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