NM_172250.3:c.433C>T

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HGVS Expressions

  • NG_007536.2:g.45531C>T
  • NM_172250.3:c.433C>T
  • NP_758454.1:p.Arg145Ter
  • NC_000004.12:g.145639572C>T

Associated Genes

Metabolism of Cobalamin Associated A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104893851

Clinvar

3160

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607481.1Qatar10.009PathogenicDevadoss Gandhi et al. 2024 1 individual from a study of 14,060 Qata...
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Contributors

  • Sayeeda Hana: 19.12.2024

Edit History

  • Sayeeda Hana: 19.12.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.