Aures NM_001360016.2:c.143T>C

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  2. Aures NM_001360016.2:c.143T>C

HGVS Expressions

  • NG_009015.2:g.16417T>C
  • NM_001360016.2:c.143T>C
  • NP_001346945.1:p.Ile48Thr
  • NC_000023.11:g.154536156A>G

Associated Genes

Glucose-6-Phosphate Dehydrogenase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

76645461

Clinvar

10402

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300908.G.3United Arab Emirates; Yem...3PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyBayoumi et al. 1996 Group of 3 UAE nationals of Yemeni origi...
300908.G.11.2United Arab Emirates17+PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyAmro et al. 2014 Group of 17 Emirati subjects
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Contributors

  • Sayeeda Hana: 12.11.2020

Edit History

  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 23.08.2022
  • Asha Deepthi: 05.04.2022
  • Sayeeda Hana: 17.11.2020
  • Sayeeda Hana: 12.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.