NM_000142.5:c.1118A>G

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HGVS Expressions

  • NG_012632.1:g.16061A>G
  • NM_000142.5:c.1118A>G
  • NP_000133.1:p.Tyr373Cys
  • NC_000004.12:g.1804372A>G

Associated Genes

Fibroblast Growth Factor Receptor 3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121913485

Clinvar

16342

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
187600.4Saudi Arabia1PathogenicThanatophoric Dysplasia, Type IMonies et al. 2017
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Contributors

  • Asha Deepthi: 08.11.2024

Edit History

  • Asha Deepthi: 08.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.