NM_000277.3:c.1055G>T

HGVS Expressions

  • NG_008690.2:g.119065G>T
  • NM_000277.3:c.1055G>T
  • NP_000268.1:p.Gly352Val
  • NC_000012.12:g.102844346C>A
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.2.1Lebanon2PathogenicPhenylketonuriaKaram et al. 2013
261600.2.2Lebanon2PathogenicPhenylketonuriaKaram et al. 2013 Sibling of 261600.2.1. Diagnosed through...
261600.3Lebanon2PathogenicPhenylketonuriaKaram et al. 2013
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