NM_000138.5:c.2051G>A

HGVS Expressions

  • NG_008805.2:g.146940G>A
  • NM_000138.5:c.2051G>A
  • NP_000129.3:p.Cys684Tyr
  • NC_000015.10:g.48503849C>T

Associated Genes

Fibrillin 1
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Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

854113

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
614185.G.1Saudi Arabia5NAPathogenicGeleophysic Dysplasia 2Maddirevula et al. 2018 Five related patients
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