NM_000138.4:c.5157C>G

HGVS Expressions

  • NG_008805.2:g.187640C>G
  • NM_000138.4:c.5157C>G
  • NP_000129.3:p.Cys1719Trp
  • NC_000015.10:g.48463149G>C

Associated Genes

Fibrillin 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
231050.2Lebanon1Likely PathogenicGeleophysic Dysplasia 2Le Goff et al. 2011 de novo mutation
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