NM_015512.5:c.3460A>C

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HGVS Expressions

  • NG_052911.1:g.42295A>C
  • NM_015512.5:c.3460A>C
  • NP_056327.4:p.Lys1154Gln
  • NC_000003.12:g.52353613A>C

Associated Genes

Dynein, Axonemal, Heavy Chain 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

544674332

Clinvar

209005

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.