NM_001042492.3:c.3291del

HGVS Expressions

  • NG_009018.1:g.142190del
  • NM_001042492.3:c.3291del
  • NP_001035957.1:p.Ala1098ProfsTer14
  • NC_000017.11:g.31232166del

Associated Genes

Neurofibromin 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162200.4United Arab Emirates1Likely PathogenicNeurofibromatosis, Type IBen-Salem et al. 2014
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