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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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 2025. All rights reserved.
© CAGS 2025. All rights reserved.