NM_001042492.3:c.6733C>T

HGVS Expressions

  • NM_001042492.3:c.6733C>T
  • NP_001035957.1:p.Gln2245Ter
  • NC_000017.11:g.31338053C>T

Associated Genes

Neurofibromin 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

657256

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162200.17United Arab Emirates1PathogenicNeurofibromatosis, Type ISaleh et al. 2021 de novo mutation
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