NM_001042492.3:c.4065_4066del

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HGVS Expressions

  • NG_009018.1:g.159098_159099del
  • NM_001042492.3:c.4065_4066del
  • NP_001035957.1:p.Glu1356IlefsTer23
  • NC_000017.11:g.31249075_31249076del

Associated Genes

Neurofibromin 1
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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
162200.8United Arab Emirates1Likely PathogenicNeurofibromatosis, Type IBen-Salem et al. 2014
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Contributors

  • Sayeeda Hana: 17.07.2020

Edit History

  • Pratibha Nair: 03.01.2023
  • Pratibha Nair: 29.11.2022
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 17.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.