NM_007198.4:c.207+1G>A

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HGVS Expressions

  • NG_053030.1:g.8882G>A
  • NM_007198.4:c.207+1G>A
  • NP_009129.1:p.?
  • NC_000008.11:g.37765634G>A

Associated Genes

Pyridoxal Phosphate-Binding Protein
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

767795673

Clinvar

374854

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604436.G.1Qatar50.019PathogenicDevadoss Gandhi et al. 2024 5 individuals from a study of 14,060 Qat...
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Contributors

  • Sayeeda Hana: 19.01.2025

Edit History

  • Sayeeda Hana: 19.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.