NM_001206927.1:c.3289A>G

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HGVS Expressions

  • NG_041805.1:g.103745A>G
  • NM_001206927.1:c.3289A>G
  • NP_001193856.1:p.Ile1097Val
  • NC_000006.12:g.38814085A>G

Associated Genes

Dynein, Axonemal, Heavy Chain 8
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

147941001

Clinvar

966791

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
244400.4United Arab Emirates1Uncertain SignificanceCiliary Dyskinesia, Primary, 1Alsamri et al. 2021
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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.