NM_183050.4:c.1016C>T

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  2. NM_183050.4:c.1016C>T

HGVS Expressions

  • NG_009775.1:g.171573C>T
  • NM_183050.4:c.1016C>T
  • NP_000047.1:p.Ser339Leu

Associated Genes

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

chr6:80273199

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

398124561

Clinvar

96563

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248600.5Lebanon1PathogenicJalkh et al. 2019 Mother of child with maple syrup urine d...
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Contributors

  • Pratibha Nair: 28.10.2020

Edit History

  • Pratibha Nair: 28.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.