NM_005411.5:c.630C>G

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HGVS Expressions

  • NG_021189.1:g.8058C>G
  • NM_005411.5:c.630C>G
  • NP_005402.3:p.Asn210Lys
  • NC_000010.11:g.79613996C>G

Associated Genes

Surfactant, Pulmonary-Associated Protein A1
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Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

150214547

Clinvar

227943

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
178500.1.2United Arab Emirates1Uncertain SignificanceAlsamri 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.