NM_001197104.1:c.10881_10884del

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HGVS Expressions

  • NG_027813.1:g.77692_77695del
  • NM_001197104.1:c.10881_10884del
  • NP_001184033.1:p.Glu3629LysfsTer20
  • NC_000011.10:g.118509181_118509184del

Associated Genes

Lysine-Specific Methyltransferase 2A
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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
605130.1United Arab Emirates1Likely PathogenicWiedemann-Steiner SyndromeSaleh et al. 2021 Affected father and siblings
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Contributors

  • Pratibha Nair: 14.09.2021

Edit History

  • Pratibha Nair: 06.02.2023
  • Rahila Mir: 09.02.2022
  • Pratibha Nair: 14.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.