NM_001385.2:c.1078T>C

HGVS Expressions

  • NG_008840.1:g.44056T>C
  • NM_001385.2:c.1078T>C
  • NP_001376.1:p.Trp360Arg
  • NC_000008.11:g.104427994A>G

Associated Genes

Dihydropyriminidase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

186

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
222748.1.1Lebanon2PathogenicDihydropyrimidinase DeficiencyHamajima et al., 1998; van Gennip et al., 1997
222748.1.2Lebanon1PathogenicDihydropyrimidinase DeficiencyHamajima et al., 1998 Mother of 222748.1.1
222748.1.3Lebanon1PathogenicDihydropyrimidinase DeficiencyHamajima et al., 1998 Father of 222748.1.1
222748.1.4Lebanon1PathogenicDihydropyrimidinase DeficiencyHamajima et al., 1998 Maternal grandfather of 222748.1.1
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