NM_000138.5:c.2626_2634del

HGVS Expressions

  • NG_008805.2:g.155615_155623del
  • NM_000138.5:c.2626_2634del
  • NP_000129.3:p.Cys876_Ser878del
  • NC_000015.10:g.48495167_48495175del

Associated Genes

Fibrillin 1
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
154700.3Saudi Arabia1NAPathogenicMarfan SyndromeMaddirevula et al. 2018 De novo mutation
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