NM_018444.4:c.1534C>T

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  2. NM_018444.4:c.1534C>T

HGVS Expressions

  • NG_012233.1:g.11660C>T
  • NM_018444.4:c.1534C>T
  • NP_060914.2:p.Arg512Ter
  • NC_000008.11:g.93923593C>T

Associated Genes

Pyruvate Dehydrogenase Phosphatase, Catalytic Subunit 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

529681365

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605993.G.1Qatar0.009Likely PathogenicDevadoss Gandhi et al. 2024 Unknown number of heterozygous and homoz...
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Contributors

  • Sayeeda Hana: 16.04.2025

Edit History

  • Sayeeda Hana: 16.04.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.