NM_000267.3:c.1397_1398dup

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HGVS Expressions

  • NG_009018.1:g.124479_124480dup
  • NM_000267.3:c.1397_1398dup
  • NP_000258.1:p.Thr467LeufsTer7
  • NC_000017.11:g.31214455_31214456dup

Associated Genes

Neurofibromin 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162200.13United Arab Emirates1Likely PathogenicNeurofibromatosis, Type ISaleh et al. 2021 de novo mutation
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Contributors

  • Pratibha Nair: 13.09.2021

Edit History

  • Rahila Mir: 09.02.2022
  • Pratibha Nair: 13.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.