NM_018138.5:c.1449del

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  2. NM_018138.5:c.1449del

HGVS Expressions

  • NM_018138.5:c.1449del
  • NP_060608.1:p.Gly485ValfsTer24
  • NC_000003.12:g.186554351del

Associated Genes

TBCC Domain-Containing Protein 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
258150.22Saudi Arabia2Likely PathogenicSpermatogenic Failure 1Alhathal et al. 2020
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Contributors

  • Pratibha Nair: 20.03.2023

Edit History

  • Pratibha Nair: 20.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.