NM_000142.5:c.1138G>A

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  2. NM_000142.5:c.1138G>A

HGVS Expressions

  • NG_012632.1:g.16081G>A
  • NM_000142.5:c.1138G>A
  • NP_000133.1:p.Gly380Arg
  • NC_000004.12:g.1804392G>A

Associated Genes

Fibroblast Growth Factor Receptor 3
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

28931614

Clinvar

16327

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
100800.1.1Arab1PathogenicAchondroplasiaFalik-Zaccai et al. 2000
100800.3United Arab Emirates1PathogenicAchondroplasiaSaleh et al. 2021 de novo mutation
100800.4Saudi Arabia1NAPathogenicAchondroplasiaMaddirevula et al. 2018 De novo mutation
100800.5Saudi Arabia1NAPathogenicAchondroplasiaMaddirevula et al. 2018 De novo mutation
100800.6Saudi Arabia1NAPathogenicAchondroplasiaMaddirevula et al. 2018 De novo mutation
100800.7Saudi Arabia1NAPathogenicAchondroplasiaMaddirevula et al. 2018 Mutation is de novo. Patient's parents a...
100800.8Saudi Arabia1NAPathogenicAchondroplasiaMaddirevula et al. 2018 De novo mutation
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Contributors

  • Pratibha Nair: 14.09.2021
  • Sayeeda Hana: 18.06.2019

Edit History

  • Sami Bizzari: 24.01.2024
  • Asha Deepthi: 24.11.2021
  • Pratibha Nair: 14.09.2021
  • Sami Bizzari: 07.05.2020
  • Sayeeda Hana: 18.06.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.