NM_000142.4:c.1138G>C

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  2. NM_000142.4:c.1138G>C

HGVS Expressions

  • NG_012632.1:g.16081G>C
  • NM_000142.4:c.1138G>C
  • NP_000133.1:p.Gly380Arg

Associated Genes

Fibroblast Growth Factor Receptor 3
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Genomic Location

Chr4: 1804392

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

28931614

Clinvar

16328

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
100800.G.1Arab; Algeria; Iraq; Moro...30PathogenicAchondroplasiaFalik-Zaccai et al. 2000 Group comprising of 30 subjects from Alg...
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Contributors

  • Sayeeda Hana: 18.06.2019

Edit History

  • Sami Bizzari: 06.05.2020
  • Sayeeda Hana: 18.06.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.