NM_000267.3:c.574C>T

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HGVS Expressions

  • NG_009018.1:g.80009C>T
  • NM_000267.3:c.574C>T
  • NP_000258.1:p.Arg192Ter
  • NC_000017.11:g.31169985C>T

Associated Genes

Neurofibromin 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

397514641

Clinvar

40093

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162200.16United Arab Emirates1PathogenicNeurofibromatosis, Type ISaleh et al. 2021 de novo mutation
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Contributors

  • Pratibha Nair: 13.09.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 13.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.