NM_002972.3:c.1004T>C

HGVS Expressions

  • NG_041810.1:g.14095T>C
  • NM_002972.3:c.1004T>C
  • NP_002963.2:p.Leu335Pro
  • NC_000022.11:g.50465968A>G

Associated Genes

SET-Binding Factor 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615284.1Lebanon; Syria2Likely PathogenicCharcot-Marie-Tooth Disease, Type 4B3Romani et al. 2016; Mégarbané et al. 2010 Has a similarly affected male sibling. B...
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