NM_015512.5:c.5375A>G

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  2. NM_015512.5:c.5375A>G

HGVS Expressions

  • NG_052911.1:g.53558A>G
  • NM_015512.5:c.5375A>G
  • NP_056327.4:p.Lys1792Arg
  • NC_000003.12:g.52364876A>G

Associated Genes

Dynein, Axonemal, Heavy Chain 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

755604954

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617576.2Saudi Arabia1Likely PathogenicSpermatogenic Failure 18Alhathal et al. 2020
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Contributors

  • Pratibha Nair: 07.03.2023

Edit History

  • Pratibha Nair: 07.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.