NM_004820.5:c.1057G>T

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HGVS Expressions

  • NG_008338.2:g.188766G>T
  • NM_004820.5:c.1057G>T
  • NP_004811.1:p.Glu353Ter
  • NC_000008.11:g.64615026C>A

Associated Genes

Cytochrome P450, Family 7, Subfamily B, Member 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
270800.1Saudi Arabia2Likely PathogenicSpastic Paraplegia 5A, Autosomal RecessiveMonies et al. 2017
613812.1Saudi Arabia2Likely PathogenicBile Acid Synthesis Defect, Congenital, 3Monies et al. 2017
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Contributors

  • Asha Deepthi: 23.09.2024

Edit History

  • Asha Deepthi: 16.10.2024
  • Asha Deepthi: 23.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.