NM_020638.3:c.386C>T

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HGVS Expressions

  • NG_007087.1:g.14016C>T
  • NM_020638.3:c.386C>T
  • NP_065689.1:p.Ser129Phe
  • NC_000012.12:g.4370713G>A

Associated Genes

Fibroblast Growth Factor 23
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104894344

Clinvar

5029

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617993.G.1Palestine10PathogenicTumoral Calcinosis, Hyperphosphatemic, Familial, 2 Shawar et al. 2016 5 patients from the same Palestinian cla...
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Contributors

  • Pratibha Nair: 13.07.2022

Edit History

  • Pratibha Nair: 13.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.