NM_000277.3:c.143T>C

HGVS Expressions

  • NG_008690.2:g.50595T>C
  • NM_000277.3:c.143T>C
  • NP_000268.1:p.Leu48Ser
  • NC_000012.12:g.102912816A>G
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

5030841

Clinvar

608

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.31Egypt1Likely PathogenicPhenylketonuriaBen-Rebeh et al. 2012
261600.32Palestine1Likely PathogenicPhenylketonuriaBen-Rebeh et al. 2012
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