NM_001304480.1:c.1229T>G

HGVS Expressions

  • NG_008626.2:g.207689T>G
  • NM_001304480.1:c.1229T>G
  • NP_001291409.1:p.Met410Arg
  • NC_000012.12:g.32602217T>G
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

38445

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609311.3.1Lebanon2PathogenicCharcot-Marie-Tooth Disease, Type 4HDe Sandre-Giovannoli et al. 2005; Delague et al. 2007
609311.3.2Lebanon2PathogenicCharcot-Marie-Tooth Disease, Type 4HDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 Sibling of 609311.3.1
609311.3.3Lebanon2PathogenicCharcot-Marie-Tooth Disease, Type 4HDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 First cousin once removed of 609311.3.1
609311.3.4Lebanon2PathogenicCharcot-Marie-Tooth Disease, Type 4HDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 Sibling of 609311.3.3
609311.3.5Lebanon2PathogenicCharcot-Marie-Tooth Disease, Type 4HDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 First cousin of 609311.3.3
609311.3.6Lebanon2PathogenicCharcot-Marie-Tooth Disease, Type 4HDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 First cousin once removed of 609311.3.3
609311.3.7Lebanon2PathogenicCharcot-Marie-Tooth Disease, Type 4HDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 Sibling of 609311.3.6
609311.3.8Lebanon2PathogenicCharcot-Marie-Tooth Disease, Type 4HDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 Sibling of 609311.3.6
609311.4.1Algeria2PathogenicCharcot-Marie-Tooth Disease, Type 4HDe Sandre-Giovannoli et al. 2005; Delague et al. 2007
609311.4.2Algeria2PathogenicCharcot-Marie-Tooth Disease, Type 4HDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 Sibling of 609311.4.1
609311.4.3Algeria2PathogenicCharcot-Marie-Tooth Disease, Type 4HDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 Sibling of 609311.4.1
609311.4.4Algeria2PathogenicCharcot-Marie-Tooth Disease, Type 4HDe Sandre-Giovannoli et al. 2005; Delague et al. 2007 Sibling of 609311.4.1
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