NM_000343.4:c.83A>G

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  2. NM_000343.4:c.83A>G

HGVS Expressions

  • NG_017045.1:g.5333A>G
  • NM_000343.4:c.83A>G
  • NP_000334.1:p.Asp28Gly
  • NC_000022.11:g.32043364A>G

Associated Genes

Solute Carrier Family 5 (Sodium/Glucose Cotransporter), Member 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121912669

Clinvar

12908

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606824.1.1Lebanon2PathogenicGlucose/Galactose MalabsorptionTurk et al. 1994
606824.1.2Lebanon1Turk et al. 1994 Father of 606824.1.1
606824.1.3Lebanon1Turk et al. 1994 Mother of 606824.1.1
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Contributors

  • Pratibha Nair: 26.04.2021

Edit History

  • Pratibha Nair: 26.04.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.