NM_003620.4:c.939_940del

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HGVS Expressions

  • NM_003620.4:c.939_940del
  • NP_003611.1:p.Ser313ArgfsTer28
  • NC_000017.11:g.60648004_60648005del

Associated Genes

Protein Phosphatase, Magnesium/Manganese-Dependent, 1D
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617450.1Saudi Arabia2Likely PathogenicJansen-De Vries SyndromeMonies et al. 2019
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Contributors

  • Pratibha Nair: 27.11.2023

Edit History

  • Pratibha Nair: 27.11.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.