NM_001918.4:c.1281+1G>T

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HGVS Expressions

  • NG_011852.2:g.48625G>T
  • NM_001918.4:c.1281+1G>T
  • NP_001909.3:p.?
  • NC_000001.11:g.100206229C>A

Associated Genes

Dihydrolipoamide Branched-Chain Transacylase
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

1557943881

Clinvar

623330

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248600.2.1United Arab Emirates2PathogenicMaple Syrup Urine DiseaseAl-Shamsi et al. 2014
248600.7United Arab Emirates2NALikely PathogenicMaple Syrup Urine DiseaseAl-Jasmi at al. 2016
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Contributors

  • Sayeeda Hana: 21.04.2020

Edit History

  • Pratibha Nair: 28.11.2022
  • Pratibha Nair: 23.08.2022
  • Asha Deepthi: 09.06.2021
  • Sayeeda Hana: 21.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.