NM_017950.4:c.1445G>A

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HGVS Expressions

  • NG_029761.1:g.33858G>A
  • NM_017950.4:c.1445G>A
  • NP_060420.2:p.Cys482Tyr
  • NC_000017.11:g.80065489G>A

Associated Genes

Coiled-Coil Domain-Containing Protein 40
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

367601192

Clinvar

525408

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613808.1United Arab Emirates1NAUncertain SignificanceCiliary Dyskinesia, Primary, 15Alsamri et al. 2021 'Patient 6' in the publication
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Contributors

  • Asha Deepthi: 30.08.2022

Edit History

  • Pratibha Nair: 20.02.2023
  • Asha Deepthi: 30.08.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.