NM_006218.3:c.2740G>A

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HGVS Expressions

  • NG_012113.2:g.86555G>A
  • NM_006218.3:c.2740G>A
  • NP_006209.2:p.Gly914Arg
  • NC_000003.12:g.179230077G>A

Associated Genes

Phosphatidylinositol 3-Kinase, Catalytic, Alpha
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

587776932

Clinvar

39703

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612918.1United Arab Emirates1Likely PathogenicCongenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal NeviSaleh et al. 2021 de novo mutation
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Contributors

  • Pratibha Nair: 12.09.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 12.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.