NM_001360016.2:c.202G>A

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HGVS Expressions

  • NG_009015.2:g.16571G>A
  • NM_001360016.2:c.202G>A
  • NP_001346945.1:p.Val68Met
  • NC_000023.11:g.154536002C>T

Associated Genes

Glucose-6-Phosphate Dehydrogenase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1050828

Clinvar

37123

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300908.8United Arab Emirates1PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyAbdulrazzaq et al. 1999
300908.G.11.3United Arab Emirates12+PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyAmro et al. 2014 Group of 12 Emirati subjects
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Contributors

  • Sayeeda Hana: 25.08.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Asha Deepthi: 05.04.2022
  • Sayeeda Hana: 25.08.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.