NM_001042492.3:c.6546C>G

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HGVS Expressions

  • NG_009018.1:g.247510C>G
  • NM_001042492.3:c.6546C>G
  • NP_001035957.1:p.Tyr2182Ter
  • NC_000017.11:g.31337486C>G

Associated Genes

Neurofibromin 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

876659768

Clinvar

803373

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162200.7United Arab Emirates1PathogenicNeurofibromatosis, Type IBen-Salem et al. 2014
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Contributors

  • Sayeeda Hana: 17.07.2020

Edit History

  • Pratibha Nair: 23.08.2022
  • Sayeeda Hana: 17.07.2020
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© CAGS 2024. All rights reserved.