NM_000138.5:c.6872-1G>A

HGVS Expressions

  • NG_008805.2:g.222317G>A
  • NM_000138.5:c.6872-1G>A
  • NC_000015.10:g.48428472C>T

Associated Genes

Fibrillin 1
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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
154700.2Saudi Arabia1NAPathogenicMarfan SyndromeMaddirevula et al. 2018 De novo mutation
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