NM_013264.5:c.275C>T

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HGVS Expressions

  • NG_033067.1:g.2049G>A
  • NM_013264.5:c.275C>T
  • NP_037396.3:p.Pro92Leu
  • NC_000011.10:g.125906173C>T

Associated Genes

Dead-Box Helicase 25
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

988388555

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
258150.7Saudi Arabia2Likely PathogenicSpermatogenic Failure 1Alhathal et al. 2020
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Contributors

  • Pratibha Nair: 16.03.2023

Edit History

  • Pratibha Nair: 16.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.