NM_000142.4:c.742C>T

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HGVS Expressions

  • NG_012632.1:g.13526C>T
  • NM_000142.4:c.742C>T
  • NP_000133.1:p.Arg248Cys
  • NC_000004.12:g.1801837C>T

Associated Genes

Fibroblast Growth Factor Receptor 3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121913482

Clinvar

16332

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
187600.1United Arab Emirates1PathogenicThanatophoric Dysplasia, Type ISimsek et al. 2003
187600.2United Arab Emirates1PathogenicThanatophoric Dysplasia, Type IBekdache et al. 2010
187600.3Saudi Arabia1NAPathogenicThanatophoric Dysplasia, Type IMaddirevula et al. 2018 De novo mutation
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Contributors

  • Sayeeda Hana: 15.09.2020

Edit History

  • Pratibha Nair: 12.01.2023
  • Asha Deepthi: 24.11.2021
  • Sayeeda Hana: 15.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.