NM_001042492.2:c.495_498delTGTT

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HGVS Expressions

  • NG_009018.1:g.79930_79933delTGTT
  • NM_001042492.2:c.495_498delTGTT
  • NP_001035957.1:p.Cys167fs

Associated Genes

Neurofibromin 1
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Genomic Location

chr17:31169906-31169909

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

786201874

Clinvar

185021

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162200.2Lebanon1PathogenicNeurofibromatosis, Type INair et al. 2018
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Contributors

  • Pratibha Nair: 28.04.2020

Edit History

  • Sayeeda Hana: 04.10.2020
  • Pratibha Nair: 28.04.2020
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© CAGS 2024. All rights reserved.