NM_001352514.2:c.2434C>T

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HGVS Expressions

  • NG_016193.2:g.238837C>T
  • NM_001352514.2:c.2434C>T
  • NP_001339443.1:p.Arg812Ter
  • NC_000021.9:g.36756558G>A

Associated Genes

Holocarboxylase Synthetase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

146448211

Clinvar

203770

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609018.G.1Qatar20.009PathogenicDevadoss Gandhi et al. 2024 2 individuals from a study of 14,060 Qat...
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Contributors

  • Sayeeda Hana: 15.12.2024

Edit History

  • Sayeeda Hana: 15.12.2024
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.