NM_000142.5:c.749C>G

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  2. NM_000142.5:c.749C>G

HGVS Expressions

  • NG_012632.1:g.13533C>G
  • NM_000142.5:c.749C>G
  • NP_000133.1:p.Pro250Arg
  • NC_000004.12:g.1801844C>G

Associated Genes

Fibroblast Growth Factor Receptor 3
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

4647924

Clinvar

16340

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
134934.1United Arab Emirates1NAPathogenicFGFR3 Related Neurodevelopmental DisorderMahfouz et al. 2020
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Contributors

  • Asha Deepthi: 14.07.2022

Edit History

  • Pratibha Nair: 21.12.2022
  • Asha Deepthi: 14.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.