NM_001042492.3:c.6374T>C

HGVS Expressions

  • NG_009018.1:g.246885T>C
  • NM_001042492.3:c.6374T>C
  • NP_001035957.1:p.Leu2125Pro
  • NC_000017.11:g.31336861T>C

Associated Genes

Neurofibromin 1
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

660822

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162200.10.1United Arab Emirates1PathogenicNeurofibromatosis, Type IBen-Salem et al. 2014
162200.10.2United Arab Emirates1PathogenicNeurofibromatosis, Type IBen-Salem et al. 2014 Father of 162200.10.1
162200.18United Arab Emirates1Likely PathogenicNeurofibromatosis, Type ISaleh et al. 2021 Affected father
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