NM_002972.4:c.1327G>A

HGVS Expressions

  • NG_041810.1:g.15066G>A
  • NM_002972.4:c.1327G>A
  • NP_002963.2:p.Asp443Asn
  • NC_000022.11:g.50465006C>T

Associated Genes

SET-Binding Factor 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

162096

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615284.3.1Saudi Arabia2Likely PathogenicCharcot-Marie-Tooth Disease, Type 4B3Bohlega et al. 2011; Alazami et al. 2014; Alazami et al. 2015
615284.3.2Saudi Arabia2Likely PathogenicCharcot-Marie-Tooth Disease, Type 4B3Bohlega et al. 2011; Alazami et al. 2014 Brother of 615284.3.1
615284.3.3Saudi Arabia2Likely PathogenicCharcot-Marie-Tooth Disease, Type 4B3Bohlega et al. 2011; Alazami et al. 2014 Brother of 615284.3.1
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