NM_001089.2:c.4195G>A

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HGVS Expressions

  • NG_011790.1:g.64556G>A
  • NM_001089.2:c.4195G>A
  • NP_001080.2:p.Val1399Met
  • NC_000016.10:g.2281191C>T

Associated Genes

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

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

763166660

Clinvar

1738591

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610921.2.1United Arab Emirates2Likely PathogenicSurfactant Metabolism Dysfunction, Pulmonary, 3Alsamri et al. 2021
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Contributors

  • Sami Bizzari: 14.06.2022

Edit History

  • Pratibha Nair: 04.01.2023
  • Sami Bizzari: 18.07.2022
  • Sami Bizzari: 14.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.