NM_001369.2:c.5503C>T

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  2. NM_001369.2:c.5503C>T

HGVS Expressions

  • NG_013081.2:g.108369C>T
  • NM_001369.2:c.5503C>T
  • NP_001360.1:p.Gln1835Ter
  • NC_000005.10:g.13841112G>A

Associated Genes

Dynein, Axonemal, Heavy Chain 5
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic, Uncertain Significance

Variant Type

Substitution

dbSNP

761622153

Clinvar

372356

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608644.2.1United Arab Emirates2PathogenicCiliary Dyskinesia, Primary, 3Alsamri et al. 2021
608644.2.2United Arab Emirates2PathogenicCiliary Dyskinesia, Primary, 3Alsamri et al. 2021 Sibling of 608644.2.1
610921.1United Arab Emirates1Uncertain SignificanceAlsamri et al. 2021
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Contributors

  • Sami Bizzari: 14.07.2022

Edit History

  • Pratibha Nair: 24.01.2023
  • Pratibha Nair: 01.09.2022
  • Sami Bizzari: 18.07.2022
  • Sami Bizzari: 14.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.