NM_002972.4:c.2570-1G>T

HGVS Expressions

  • NG_041810.1:g.18202G>T
  • NM_002972.4:c.2570-1G>T
  • NC_000022.11:g.50461870C>A

Associated Genes

SET-Binding Factor 1
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615284.2Saudi Arabia2PathogenicCharcot-Marie-Tooth Disease, Type 4B3Shaheen et al. 2019
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