NM_000277.3:c.755G>A

HGVS Expressions

  • NG_008690.2:g.110509G>A
  • NM_000277.3:c.755G>A
  • NP_000268.1:p.Arg252Gln
  • NC_000012.12:g.102852902C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

102824

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.G.8United Arab EmiratesPathogenicPhenylketonuriaAl-Shamsi et al. 2014; Ali et al. 2011 Emirati patient(s) with PKU. Number of p...
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