NM_000255.4:c.2080C>T

HGVS Expressions

  • NG_007100.1:g.32640C>T
  • NM_000255.4:c.2080C>T
  • NP_000246.2:p.Arg694Trp
  • NC_000006.12:g.49435500G>A

Associated Genes

Methylmalonyl-CoA Mutase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

218996

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251000.2United Arab Emirates2NALikely PathogenicMethylmalonic Aciduria due to Methylmalonyl-CoA Mutase DeficiencyAl-Jasmi at al. 2016 Mutation identified through newborn scre...
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