NM_000178.4:c.847C>T

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  2. NM_000178.4:c.847C>T

HGVS Expressions

  • NG_008848.2:g.28907C>T
  • NM_000178.4:c.847C>T
  • NP_001309423.1:p.Arg283Cys

Associated Genes

Glutathione Synthetase
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Genomic Location

chr20:34932121

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121909309

Clinvar

8528

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
266130.2.1Saudi Arabia2PathogenicGlutathione Synthetase DeficiencyAl-Jishi et al. 1999
266130.2.2Saudi Arabia2PathogenicGlutathione Synthetase DeficiencyAl-Jishi et al. 1999 Brother of 266130.2.1
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Contributors

  • Sayeeda Hana: 05.08.2020

Edit History

  • Sayeeda Hana: 05.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.