NM_001369.2:c.4807C>A

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  2. NM_001369.2:c.4807C>A

HGVS Expressions

  • NG_013081.2:g.89886C>A
  • NM_001369.2:c.4807C>A
  • NP_001360.1:p.Pro1603Thr
  • NC_000005.10:g.13859595G>T

Associated Genes

Dynein, Axonemal, Heavy Chain 5
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

369137751

Clinvar

525557

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608644.3.1United Arab Emirates2Likely PathogenicCiliary Dyskinesia, Primary, 3Alsamri et al. 2021
608644.3.2United Arab Emirates2Likely PathogenicCiliary Dyskinesia, Primary, 3Alsamri et al. 2021 Sibling of 608644.3.1
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Contributors

  • Pratibha Nair: 01.09.2022

Edit History

  • Pratibha Nair: 20.02.2023
  • Pratibha Nair: 01.09.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.