NM_020166.5:c.694C>T

HGVS Expressions

  • NG_008100.1:g.33512C>T
  • NM_020166.5:c.694C>T
  • NP_064551.3:p.Arg232Trp
  • NC_000003.12:g.183071066G>A
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

167272

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
210200.G.1United Arab Emirates3-Methylcrotonyl-CoA Carboxylase 1 DeficiencyAl-Shamsi et al. 2014 3 mutations identified in unknown number...
210200.G.2United Arab EmiratesNANALikely Pathogenic3-Methylcrotonyl-CoA Carboxylase 1 DeficiencyAl-Jasmi at al. 2016 Mutations identified in unknown number o...
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