NM_022132.5:c.158T>C

HGVS Expressions

  • NG_008882.1:g.10667T>C
  • NM_022132.5:c.158T>C
  • NP_071415.1:p.Val53Ala
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Genomic Location

chr5:71592954

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
210210.1Lebanon2Pathogenic3-Methylcrotonyl-CoA Carboxylase 2 DeficiencyNair et al. 2018
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