NM_000277.3:c.441+5G>T

HGVS Expressions

  • NG_008690.2:g.85954G>T
  • NM_000277.3:c.441+5G>T
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Genomic Location

chr12:102877457

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

92742

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.8Lebanon1PathogenicPhenylketonuriaKaram et al. 2013 Has an affected paternal uncle
261600.20KuwaitPathogenicPhenylketonuriaSamilchuk, 2005 Kuwaiti patient(s) with PKU. Number of p...
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