NM_001039569.2:c.11T>G

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  2. NM_001039569.2:c.11T>G

HGVS Expressions

  • NG_034017.1:g.64741T>G
  • NM_001039569.2:c.11T>G
  • NP_001034658.1:p.Phe4Cys
  • NC_000002.12:g.223777862A>C

Associated Genes

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

Risk factor

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

116107386

Clinvar

160376

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.26Lebanon1Uncertain SignificanceFamilial Mediterranean FeverUmar et al, 2020
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Contributors

  • Sayeeda Hana: 09.02.2021

Edit History

  • Sayeeda Hana: 17.02.2021
  • Sayeeda Hana: 16.02.2021
  • Sayeeda Hana: 11.02.2021
  • Sayeeda Hana: 09.02.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.