NM_000178.4:c.491G>A

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  2. NM_000178.4:c.491G>A

HGVS Expressions

  • NG_008848.2:g.18540G>A
  • NM_000178.4:c.491G>A
  • NP_001309423.1:p.Arg164Gln

Associated Genes

Glutathione Synthetase
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Genomic Location

chr20:34942488

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121909307

Clinvar

8525

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
266130.1Sudan2PathogenicGlutathione Synthetase DeficiencyAl-Jishi et al. 1999
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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.