NM_000255.4:c.1420C>T

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HGVS Expressions

  • NG_007100.1:g.19300C>T
  • NM_000255.4:c.1420C>T
  • NP_000246.2:p.Arg474Ter
  • NC_000006.12:g.49448840G>A

Associated Genes

Methylmalonyl-CoA Mutase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

887126161

Clinvar

554873

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251000.1United Arab Emirates2NALikely PathogenicMethylmalonic Aciduria due to Methylmalonyl-CoA Mutase DeficiencyAl-Jasmi at al. 2016 Mutation identified through newborn scre...
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Contributors

  • Asha Deepthi: 16.06.2021

Edit History

  • Asha Deepthi: 16.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.