NM_000277.3:c.838G>C

HGVS Expressions

  • NG_008690.2:g.110592G>C
  • NM_000277.3:c.838G>C
  • NP_000268.1:p.Glu280Gln
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Genomic Location

chr12:102852819

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

102864

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.17Algeria2Likely PathogenicPhenylketonuriaLyonnet et al. 1989
261600.23KuwaitPathogenicPhenylketonuriaSamilchuk, 2005 Kuwaiti patient(s) with PKU. Number of p...
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