NM_001042492.2:c.1019_1020del

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HGVS Expressions

  • NG_009018.1:g.110576_110577del
  • NM_001042492.2:c.1019_1020del
  • NP_001035957.1:p.Ser340CysfsTer12
  • NC_000017.11:g.31200552_31200553del

Associated Genes

Neurofibromin 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1555610903

Clinvar

547579

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162200.1Lebanon1PathogenicNeurofibromatosis, Type INair et al. 2018
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Contributors

  • Pratibha Nair: 23.04.2020

Edit History

  • Pratibha Nair: 09.11.2022
  • Sami Bizzari: 30.05.2021
  • Pratibha Nair: 23.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.