SLC12A3 R928C - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

SLC12A3 R928C

(SLC12A3 Arg928Cys)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr16:56936319: 3.5% (380/10758) in EVS
  • T @ chr16:55493819: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 3.5% (380/10758)

Publications
 

Genomes
 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr16:56936319

 

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr16:55493820

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr16:55493820

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr16:55493820

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr16:55493820

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr16:55493820

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr16:55493820

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr16:55493820

 

Other external references
 

    dbSNP
  • rs12708965
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (15 hits -- see all)
  • Result Content View
    All 26 exons of SLC12A3 gene were analyzed using PCR followed by direct sequencing analysis. ... C421F, D486N, R655H, R913Q, R928C and one deletion: 2883-2884delAG ...
    www.abstracts2view.com/era/view.php?nu=ERA08L_1735
  • Heterozygous mutations of the sodium chloride cotransporter ...
    ... peripheral blood and the SLC12A3 gene was amplified by polymerase ... R928C has not been reported as a polymorphism in other ethnic groups. Nevertheless, an in vitro functional ...
    ndt.oxfordjournals.org/cgi/content/full/gfn619?...
  • Heterozygous mutations of the sodium chloride cotransporter ...
    NDT Advance Access originally published online on November 25, 2008 ... isolated from peripheral blood and the SLC12A3 gene was amplified by polymerase chain ...
    ndt.oxfordjournals.org/cgi/content/abstract/24/4/1170
  • Phenotype and Genotype Analysis in Chinese Patients with ...
    ... with inactivating mutations in the SLC12A3 gene encoding the thiazide-sensitive NaCl ... in one, R959frameshift in one, and R928C in three of the 100 unrelated healthy subjects. ...
    jcem.endojournals.org/cgi/content/full/90/5/2500
  • Phenotype and Genotype Analysis in Chinese Patients with ...
    used for PCR amplification of individual exons of the SLC12A3 (National ... R928C, and R959frameshift were found in at least two un- related families, it is possible that these ...
    jcem.endojournals.org/cgi/reprint/90/5/2500.pdf
  • Poster Session 2
    INDUCED BY SERUM WITHDRAWAL IN RAT AORTIC. SMOOTH MUSCLE CELLS. Yoji ... Division of Nephrology, Department of Internal Medicine, Toho University Ohashi Medical ...
    ndtplus.oxfordjournals.org/cgi/reprint/1/suppl_2/ii232.pdf
  • 자매에게 발병한 Gitelman 증후군
    Table 2. The Result of Gene Analysis (SLC12A3 Gene Mutation Analysis) ... R928C (Het) IVS25+13C>T (Het) Polymorphism. Mutation. Polymorphism. Polymorphism ...
    www.ksn.or.kr/upload/thesis/2601102106.pdf
  • Heterozygous mutations of the sodium chloride cotransporter ...
    BACKGROUND: Gitelman's syndrome (GS), which is caused by homozygous or compound heterozygous mutations of the thiazide-sensitive sodium chloride cotransporter (NCC) ...
    www.medscape.com/medline/abstract/19033254?prt=true

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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