NM_001093770.2:c.293G>C

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  2. NM_001093770.2:c.293G>C

HGVS Expressions

  • NG_021189.1:g.6449G>C
  • NM_001093770.2:c.293G>C
  • NP_001087239.2:p.Gly98Ala
  • NC_000010.11:g.79612387G>C

Associated Genes

Surfactant, Pulmonary-Associated Protein A1
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CTGA Clinical Significance

Likely Pathogenic, Uncertain Significance

Variant Type

Substitution

dbSNP

762122985

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619611.1United Arab Emirates1Likely Pathogenic, Uncertain SignificanceInterstitial Lung Disease 1Alsamri et al. 2020; Alsamri et al. 2021 Patient had trisomy 21
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Contributors

  • Pratibha Nair: 15.02.2022

Edit History

  • Sami Bizzari: 27.12.2022
  • Pratibha Nair: 15.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.