NM_001042492.3:c.2998_2999del

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HGVS Expressions

  • NG_009018.1:g.140291_140292del
  • NM_001042492.3:c.2998_2999del
  • NP_001035957.1:p.Arg1000CysfsTer20
  • NC_000017.11:g.31230267_31230268del

Associated Genes

Neurofibromin 1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1597716817

Clinvar

800769

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162200.20.1Saudi Arabia1NAPathogenicNeurofibromatosis, Type IMaddirevula et al. 2018 Patient's parents are from the same vill...
162200.20.2Saudi Arabia1NAPathogenicNeurofibromatosis, Type IMaddirevula et al. 2018 Relative of 162200.20.1; patient's paren...
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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.