NM_005751.5:c.5251C>T

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HGVS Expressions

  • NG_011623.1:g.109222C>T
  • NM_005751.5:c.5251C>T
  • NP_005742.4:p.Arg1751Cys
  • NC_000007.14:g.92045096C>T

Associated Genes

A-Kinase Anchor Protein 9
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

144269839

Clinvar

412019

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
258150.2Saudi 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.