NM_001042492.3:c.5529dup

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HGVS Expressions

  • NG_009018.1:g.237783dup
  • NM_001042492.3:c.5529dup
  • NP_001035957.1:p.Lys1844GlnfsTer18
  • NC_000017.11:g.31327759dup

Associated Genes

Neurofibromin 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

1555533628

Clinvar

423917

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162200.23.1Saudi Arabia1NAPathogenicNeurofibromatosis, Type IMaddirevula et al. 2018 Patient's parents are from the same regi...
162200.23.2Saudi Arabia1NAPathogenicNeurofibromatosis, Type IMaddirevula et al. 2018 Relative of 162200.23.1; patient's paren...
162200.23.3Saudi Arabia1NAPathogenicNeurofibromatosis, Type IMaddirevula et al. 2018 Relative of 162200.23.1; patient's paren...
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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.