NM_000317.3:c.200C>T

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  2. NM_000317.3:c.200C>T

HGVS Expressions

  • NG_008743.1:g.9275C>T
  • NM_000317.3:c.200C>T
  • NP_000308.1:p.Thr67Met
  • NC_000011.10:g.112230639C>T

Associated Genes

6-Pyruvoyl-Tetrahydropterin Synthase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

370340361

Clinvar

463151

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261640.19Egypt2Likely PathogenicHyperphenylalaninemia, BH4-Deficient, AAlmannai et al. 2019
261640.20Sudan2Likely PathogenicHyperphenylalaninemia, BH4-Deficient, AAlmannai et al. 2019
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Contributors

  • Pratibha Nair: 25.09.2023

Edit History

  • Pratibha Nair: 25.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.