NM_001369.2:c.2821G>A

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  2. NM_001369.2:c.2821G>A

HGVS Expressions

  • NG_013081.2:g.64330G>A
  • NM_001369.2:c.2821G>A
  • NP_001360.1:p.Val941Ile
  • NC_000005.10:g.13885151C>T

Associated Genes

Dynein, Axonemal, Heavy Chain 5
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CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

370080157

Clinvar

1629728

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.74United Arab Emirates1Likely BenignAlsamri et al. 2020
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Contributors

  • Pratibha Nair: 14.02.2022

Edit History

  • Sayeeda Hana: 12.01.2023
  • Pratibha Nair: 14.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.