NM_006329.3:c.649T>C

HGVS Expressions

  • NG_008254.1:g.65420T>C
  • NM_006329.3:c.649T>C
  • NP_006320.2:p.Cys217Arg

Associated Genes

Fibulin 5
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Genomic Location

chr14:91887283

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

21454

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219100.1.1Lebanon2PathogenicCutis Laxa, Autosomal Recessive, Type IA Claus et al, 2008 Proband
219100.1.2Lebanon2PathogenicCutis Laxa, Autosomal Recessive, Type IA Claus et al, 2008 Sister of 219100.1.1
219100.1.3Lebanon1PathogenicClaus et al, 2008 Unaffected father of 219100.1.1
219100.1.4Lebanon1PathogenicClaus et al, 2008 Unaffected mother of 219100.1.1
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