NM_000266.4:c.343C>G

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HGVS Expressions

  • NG_009832.1:g.28818C>G
  • NM_000266.4:c.343C>G
  • NP_000257.1:p.Arg115Gly
  • NC_000023.11:g.43949858G>C

Associated Genes

NDP Gene
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
310600.1Saudi Arabia1Likely PathogenicNorrie DiseaseMonies et al. 2019
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Contributors

  • Pratibha Nair: 30.11.2023

Edit History

  • Pratibha Nair: 30.11.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.