NM_000162.5:c.635_637del

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HGVS Expressions

  • NG_008847.2:g.53367_53369del
  • NM_000162.5:c.635_637del
  • NP_000153.1:p.Ser212del
  • NC_000007.14:g.44149804_44149806del

Associated Genes

Glucokinase
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

193922314

Clinvar

36237

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606176.4United Arab Emirates1PathogenicHyperinsulinemic Hypoglycemia, Familial, 3Saleh et al. 2021 Father and twin brother have diabetes
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Contributors

  • Pratibha Nair: 14.09.2021

Edit History

  • Pratibha Nair: 06.02.2023
  • Asha Deepthi: 07.12.2022
  • Pratibha Nair: 14.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.