Chatham NM_001360016.2:c.1003G>A

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  2. Chatham NM_001360016.2:c.1003G>A

HGVS Expressions

  • NG_009015.2:g.19583G>A
  • NM_001360016.2:c.1003G>A
  • NP_001346945.1:p.Ala335Thr
  • NC_000023.11:g.154532990C>T

Associated Genes

Glucose-6-Phosphate Dehydrogenase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

5030869

Clinvar

10363

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300908.11United Arab Emirates1PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyAmro et al. 2014
300908.G.5Oman3PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyDaar et al. 1996 Group of 3 Omani males
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Contributors

  • Sayeeda Hana: 18.11.2020

Edit History

  • Pratibha Nair: 23.08.2022
  • Asha Deepthi: 05.04.2022
  • Sayeeda Hana: 18.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.