NM_001277115.1:c.13120G>A

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  2. NM_001277115.1:c.13120G>A

HGVS Expressions

  • NG_012886.2:g.361192G>A
  • NM_001277115.1:c.13120G>A
  • NP_001264044.1:p.Val4374Met
  • NC_000007.14:g.21899406G>A

Associated Genes

Dynein, Axonemal, Heavy Chain 11
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

560018723

Clinvar

1769687

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611884.2United Arab Emirates1Uncertain SignificanceCiliary Dyskinesia, Primary, 7Alsamri et al. 2021
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Contributors

  • Pratibha Nair: 31.08.2022

Edit History

  • Sami Bizzari: 13.01.2023
  • Sami Bizzari: 10.01.2023
  • Pratibha Nair: 31.08.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.