NM_003664.5:c.32A>G

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HGVS Expressions

  • NG_007268.1:g.5157A>G
  • NM_003664.5:c.32A>G
  • NP_003655.3:p.Gln11Arg
  • NC_000005.10:g.78294548T>C

Associated Genes

Adaptor-Related Protein Complex 3, Beta-1 Subunit
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

764312417

Clinvar

839408

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
211400.1United Arab Emirates1Uncertain SignificanceAlsamri et al. 2020; Alsamri et al. 2021 Paternal uncles with chronic lung diseas...
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Contributors

  • Pratibha Nair: 15.02.2022

Edit History

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