NM_002458.2:c.16738G>A

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  2. NM_002458.2:c.16738G>A

HGVS Expressions

  • NG_031880.1:g.41716G>A
  • NM_002458.2:c.16738G>A
  • NP_002449.2:p.Gly5580Arg
  • NC_000011.10:g.1259780G>A

Associated Genes

Mucin 5, Subtype B, Tracheobronchial
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CTGA Clinical Significance

Likely Pathogenic, Uncertain Significance

Variant Type

Substitution

dbSNP

776709402

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
178500.2.1United Arab Emirates1Likely Pathogenic, Uncertain SignificanceInterstitial Lung Disease 2Alsamri et al. 2020; Alsamri et al. 2021
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Contributors

  • Pratibha Nair: 23.02.2022

Edit History

  • Sami Bizzari: 20.01.2023
  • Sami Bizzari: 27.12.2022
  • Pratibha Nair: 24.02.2022
  • Pratibha Nair: 23.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.