NM_183050.4:c.637G>T

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HGVS Expressions

  • NG_009775.2:g.69659G>T
  • NM_183050.4:c.637G>T
  • NP_898871.1:p.Val213Phe
  • NC_000006.12:g.80171285G>T

Associated Genes

Branched-Chain Keto Acid Dehydrogenase E1, Beta Polypeptide
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

994415333

Clinvar

390609

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248600.8United Arab Emirates2Likely PathogenicMaple Syrup Urine DiseaseSaleh et al. 2021 Cousins affected with global development...
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Contributors

  • Pratibha Nair: 11.01.2022

Edit History

  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 11.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.