NM_000142.4:c.2419T>G

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  2. NM_000142.4:c.2419T>G

HGVS Expressions

  • NG_012632.1:g.18949T>G
  • NM_000142.4:c.2419T>G
  • NP_001341738.1:p.Ter808Arg

Associated Genes

Fibroblast Growth Factor Receptor 3
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Genomic Location

chr4:1807260

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121913101

Clinvar

16334

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
100800.2Lebanon1PathogenicAchondroplasiaJalkh et al. 2019
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Contributors

  • Pratibha Nair: 25.11.2020

Edit History

  • Pratibha Nair: 25.04.2021
  • Pratibha Nair: 25.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.