NM_000141.5:c.866A>C

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HGVS Expressions

  • NG_012449.2:g.83407A>C
  • NM_000141.5:c.866A>C
  • NP_000132.3:p.Gln289Pro
  • NC_000010.11:g.121520052T>G

Associated Genes

Fibroblast Growth Factor Receptor 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121918497

Clinvar

13276

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
101600.1Saudi Arabia1PathogenicPfeiffer SyndromeMonies et al. 2017
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Contributors

  • Asha Deepthi: 21.10.2024

Edit History

  • Asha Deepthi: 21.10.2024
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.