NM_001042492.3:c.7317dup

HGVS Expressions

  • NG_009018.1:g.259271dupA
  • NM_001042492.3:c.7317dup
  • NP_001035957.1:p.Ala2440SerfsTer8
  • NC_000017.11:g.31349247dup

Associated Genes

Neurofibromin 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1456524

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162200.12Lebanon1Likely PathogenicNeurofibromatosis, Type IJalkh et al. 2019
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