NM_003019.5:c.92T>C

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  2. NM_003019.5:c.92T>C

HGVS Expressions

  • NG_042218.1:g.7538T>C
  • NM_003019.5:c.92T>C
  • NP_003010.4:p.Met31Thr

Associated Genes

Surfactant, Pulmonary-Associated Protein D
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Genomic Location

chr10:79946568

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

721917

Clinvar

165219

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600807.G.1.1Lebanon790.41BenignAsthma, Susceptibility toFakih et al. 2018 Study on 123 asthma patients. 55 heteroz...
600807.G.1.2Lebanon1100.48BenignFakih et al. 2018 Study on 223 Lebanese control subjects. ...
606963.G.1.1Lebanon550.44BenignPulmonary Disease, Chronic ObstructiveFakih et al. 2018 Study on 90 COPD patients. 35 heterozygo...
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Contributors

  • Pratibha Nair: 17.05.2020

Edit History

  • Pratibha Nair: 17.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.