NM_001042492.3:c.5347del

HGVS Expressions

  • NG_009018.1:g.237601del
  • NM_001042492.3:c.5347del
  • NP_001035957.1:p.Tyr1783IlefsTer11
  • NC_000017.11:g.31327577del

Associated Genes

Neurofibromin 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

570774

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162200.5United Arab Emirates1Likely PathogenicNeurofibromatosis, Type IBen-Salem et al. 2014
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