NM_000709.4:c.890G>A

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  2. NM_000709.4:c.890G>A

HGVS Expressions

  • NG_013004.1:g.29877G>A
  • NM_000709.4:c.890G>A
  • NP_000700.1:p.Arg297His

Associated Genes

Branched-Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide
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Genomic Location

chr19:41422665

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

200137189

Clinvar

93376

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248600.6Lebanon2Likely PathogenicMaple Syrup Urine DiseaseJalkh et al. 2019
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Contributors

  • Pratibha Nair: 15.11.2020

Edit History

  • Pratibha Nair: 15.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.