NM_001277115.1:c.11839+1G>A

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HGVS Expressions

  • NG_012886.2:g.329794G>A
  • NM_001277115.1:c.11839+1G>A
  • NP_001264044.1:p.?
  • NC_000007.14:g.21868008G>A

Associated Genes

Dynein, Axonemal, Heavy Chain 11
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1783348812

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611884.1United Arab Emirates1PathogenicCiliary Dyskinesia, Primary, 7Alsamri et al. 2021
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Contributors

  • Pratibha Nair: 31.08.2022

Edit History

  • Sayeeda Hana: 27.11.2022
  • Pratibha Nair: 31.08.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.