NM_017950.4:c.62G>T

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  2. NM_017950.4:c.62G>T

HGVS Expressions

  • NG_029761.1:g.6524G>T
  • NM_017950.4:c.62G>T
  • NP_060420.2:p.Gly21Val
  • NC_000017.11:g.80038155G>T

Associated Genes

Coiled-Coil Domain-Containing Protein 40
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613808.G.1United Arab Emirates4NAPathogenicCiliary Dyskinesia, Primary, 15Alsamri et al. 2021 Two siblings
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Contributors

  • Asha Deepthi: 30.08.2022

Edit History

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