NM_001918.4:c.634C>T

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HGVS Expressions

  • NG_011852.2:g.38733C>T
  • NM_001918.4:c.634C>T
  • NP_001909.3:p.Gln212Ter
  • NC_000001.11:g.100216121G>A

Associated Genes

Dihydrolipoamide Branched-Chain Transacylase
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1553230841

Clinvar

557560

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248600.G.3YemenLikely PathogenicMaple Syrup Urine DiseaseAl-Jasmi at al. 2016 UAE resident(s) of Yemeni origin. Number...
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Contributors

  • Asha Deepthi: 09.06.2021

Edit History

  • Asha Deepthi: 09.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.