NM_001042492.3:c.775del

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HGVS Expressions

  • NG_009018.1:g.92576del
  • NM_001042492.3:c.775del
  • NP_001035957.1:p.Ser259AlafsTer22
  • NC_000017.11:g.31182552del

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
162200.25.1Saudi Arabia1NAPathogenicNeurofibromatosis, Type IMaddirevula et al. 2018
162200.25.2Saudi Arabia1NAPathogenicNeurofibromatosis, Type IMaddirevula et al. 2018 Relative of 162200.25.1
162200.25.3Saudi Arabia1NAPathogenicNeurofibromatosis, Type IMaddirevula et al. 2018 Relative of 162200.25.1
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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.