NM_000138.5:c.5096A>G

HGVS Expressions

  • NG_008805.2:g.187579A>G
  • NM_000138.5:c.5096A>G
  • NP_000129.3:p.Tyr1699Cys
  • NC_000015.10:g.48463210T>C

Associated Genes

Fibrillin 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

29696

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614185.1Palestine1NALikely PathogenicGeleophysic Dysplasia 2Maddirevula et al. 2018 De novo mutation
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