NM_001042492.3:c.3129del

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  2. NM_001042492.3:c.3129del

HGVS Expressions

  • NG_009018.1:g.140881del
  • NM_001042492.3:c.3129del
  • NP_001035957.1:p.Glu1043AspfsTer3
  • NC_000017.11:g.31230857del

Associated Genes

Neurofibromin 1
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162200.22Saudi Arabia1NAPathogenicNeurofibromatosis, Type IMaddirevula et al. 2018 De novo mutation
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Contributors

  • Asha Deepthi: 04.02.2022

Edit History

  • Asha Deepthi: 04.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.