NM_000320.3:c.49G>C

HGVS Expressions

  • NG_008763.1:g.5229G>C
  • NM_000320.3:c.49G>C
  • NP_000311.2:p.Gly17Arg
  • NC_000004.12:g.17512006C>G
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

623325

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261630.2United Arab Emirates2NALikely PathogenicHyperphenylalaninemia, BH4-Deficient, CAl-Jasmi at al. 2016 Mutation identified through newborn scre...
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