NM_000162.3:c.667G>A

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HGVS Expressions

  • NG_008847.1:g.44652G>A
  • NM_000162.3:c.667G>A
  • NP_000153.1:p.Gly223Ser
  • NC_000007.14:g.44149772C>T

Associated Genes

Glucokinase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1360415315

Clinvar

435306

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606176.3.1Arab2Likely PathogenicDiabetes Mellitus, Permanent Neonatal, 1Mustafa et al. 2019 Strong family history of type II diabete...
606176.3.2Arab1Likely PathogenicMustafa et al. 2019 Father of 606176.3.1
606176.3.3Arab1Likely PathogenicMustafa et al. 2019 Mother of 606176.3.1
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Contributors

  • Pratibha Nair: 26.08.2021

Edit History

  • Pratibha Nair: 26.08.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.