NM_002458.2:c.16861G>T

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  2. NM_002458.2:c.16861G>T

HGVS Expressions

  • NG_031880.1:g.41959G>T
  • NM_002458.2:c.16861G>T
  • NP_002449.2:p.Glu5621Ter
  • NC_000011.10:g.1260023G>T

Associated Genes

Mucin 5, Subtype B, Tracheobronchial
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
178500.1.1United Arab Emirates2Likely PathogenicInterstitial Lung Disease 2Alsamri et al. 2020; Alsamri et al. 2021 Several variants could be contributing t...
178500.1.2United Arab Emirates2Likely PathogenicInterstitial Lung Disease 2Alsamri et al. 2020; Alsamri et al. 2021 Sibling of 178500.1.1; Several variants ...
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Contributors

  • Pratibha Nair: 17.02.2022

Edit History

  • Pratibha Nair: 17.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.