NM_001089.2:c.446C>T

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HGVS Expressions

  • NG_011790.1:g.21342C>T
  • NM_001089.2:c.446C>T
  • NP_001080.2:p.Ala149Val
  • NC_000016.10:g.2324405G>A

Associated Genes

ATP-Binding Cassette, Subfamily A, Member 3
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

145483014

Clinvar

816671

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610921.1United Arab Emirates1Uncertain SignificanceSurfactant Metabolism Dysfunction, Pulmonary, 3Alsamri et al. 2021
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Contributors

  • Sami Bizzari: 14.06.2022

Edit History

  • Pratibha Nair: 24.01.2023
  • Pratibha Nair: 11.01.2023
  • Sami Bizzari: 18.07.2022
  • Sami Bizzari: 14.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.