NM_021102.4:c.502G>A

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HGVS Expressions

  • NG_013372.1:g.30772G>A
  • NM_021102.4:c.502G>A
  • NP_066925.1:p.Gly168Ser
  • NC_000019.10:g.38290229G>A

Associated Genes

Serine Protease Inhibitor, Kunitz-Type, 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

606231284

Clinvar

157607

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613217.23.1Algeria2Likely PathogenicDiarrhea 3, Secretory Sodium, Congenital, with or without Other Congenital AnomaliesSalomon et al. 2014
613217.23.2Algeria2Likely PathogenicDiarrhea 3, Secretory Sodium, Congenital, with or without Other Congenital AnomaliesSalomon et al. 2014 Relative of 613217.23.1
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Contributors

  • Pratibha Nair: 16.10.2023

Edit History

  • Pratibha Nair: 16.10.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.