NM_000138.4:c.7713T>G

HGVS Expressions

  • NG_008805.2:g.229996T>G
  • NM_000138.4:c.7713T>G
  • NP_000129.3:p.Cys2571Trp

Associated Genes

Fibrillin 1
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Genomic Location

chr15:48420793

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
154700.1Lebanon1PathogenicMarfan SyndromeNair et al. 2018
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