NM_000317.3:c.2T>G

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  2. NM_000317.3:c.2T>G

HGVS Expressions

  • NG_008743.1:g.5081T>G
  • NM_000317.3:c.2T>G
  • NP_000308.1:p.Met1Arg
  • NC_000011.10:g.112226445T>G

Associated Genes

6-Pyruvoyl-Tetrahydropterin Synthase
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1859865221

Clinvar

982126

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261640.6Saudi Arabia2Likely PathogenicHyperphenylalaninemia, BH4-Deficient, AAlmannai et al. 2019
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Contributors

  • Pratibha Nair: 21.09.2023

Edit History

  • Pratibha Nair: 21.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.