NM_001042492.3:c.3721C>T

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HGVS Expressions

  • NG_009018.1:g.145647C>T
  • NM_001042492.3:c.3721C>T
  • NP_001035957.1:p.Arg1241Ter
  • NC_000017.11:g.31235623C>T

Associated Genes

Neurofibromin 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

137854562

Clinvar

361

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162200.19Saudi Arabia1NALikely PathogenicNeurofibromatosis, Type IMaddirevula et al. 2018 De novo mutation
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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.