NM_001369.2:c.8765G>A

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HGVS Expressions

  • NG_013081.2:g.163247G>A
  • NM_001369.2:c.8765G>A
  • NP_001360.1:p.Arg2922His
  • NC_000005.10:g.13786234C>T

Associated Genes

Dynein, Axonemal, Heavy Chain 5
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Clinvar Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

148539877

Clinvar

351049

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
211400.3United Arab Emirates1Alsamri et al. 2021 Subject exhibiting two heterozygous muta...
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Contributors

  • Sami Bizzari: 14.07.2022

Edit History

  • Sami Bizzari: 18.07.2022
  • Sami Bizzari: 14.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.