NM_000141.5:c.943G>A

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  2. NM_000141.5:c.943G>A

HGVS Expressions

  • NG_012449.2:g.85999G>A
  • NM_000141.5:c.943G>A
  • NP_000132.3:p.Ala315Thr
  • NC_000010.11:g.121517460C>T

Associated Genes

Fibroblast Growth Factor Receptor 2
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Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

3064171

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
101600.2Saudi Arabia1Likely PathogenicPfeiffer SyndromeMonies et al. 2017
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Contributors

  • Asha Deepthi: 21.10.2024

Edit History

  • Asha Deepthi: 30.10.2024
  • Asha Deepthi: 21.10.2024
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.