NM_000320.3:c.643T>C

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HGVS Expressions

  • NG_008763.1:g.30014T>C
  • NM_000320.3:c.643T>C
  • NP_000311.2:p.Trp215Arg

Associated Genes

Quinoid Dihydropteridine Reductase
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Genomic Location

chr4:17487223

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261630.1Lebanon2Likely PathogenicHyperphenylalaninemia, BH4-Deficient, CKaram et al. 2011
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Contributors

  • Pratibha Nair: 10.05.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 10.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.