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
Back to search Result
Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

29696

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
614185.1Palestine1NALikely PathogenicGeleophysic Dysplasia 2Maddirevula et al. 2018 De novo mutation
© CAGS 2021. All rights reserved.