NM_139241.3:c.1698G>A

HGVS Expressions

  • NG_008626.2:g.231188G>A
  • NM_139241.3:c.1698G>H
  • NP_640334.2:p.Met566Ile
  • NC_000012.12:g.32625716G>A
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

637078

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609311.2.1Lebanon2PathogenicCharcot-Marie-Tooth Disease, Type 4HBaudot et al, 2012 The patient was able to walk without aid...
609311.2.2Lebanon1PathogenicBaudot et al, 2012 Unaffected father of 609311.2.1
609311.2.3Lebanon1PathogenicBaudot et al, 2012 Unaffected mother of 609311.2.1
609311.2.4Lebanon1PathogenicBaudot et al, 2012 Unaffected sister of 609311.2.1
609311.2.5Lebanon1PathogenicBaudot et al, 2012 Unaffected sister of 609311.2.1
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