NM_001042492.3:c.2540T>C

HGVS Expressions

  • NG_009018.1:g.139179T>C
  • NM_001042492.3:c.2540T>C
  • NP_001035957.1:p.Leu847Pro
  • NC_000017.11:g.31229155T>C

Associated Genes

Neurofibromin 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

68323

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162200.6United Arab Emirates1PathogenicNeurofibromatosis, Type IBen-Salem et al. 2014
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