NM_016442.4:c.1378G>C

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  2. NM_016442.4:c.1378G>C

HGVS Expressions

  • NG_027839.2:g.150398G>C
  • NM_016442.4:c.1378G>C
  • NP_057526.3:p.Gly460Arg
  • NC_000005.10:g.96790586C>G

Associated Genes

Endoplasmic Reticulum Aminopeptidase 1
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

771994807

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.32Lebanon1Uncertain SignificanceFamilial Mediterranean FeverUmar et al, 2020
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Contributors

  • Sayeeda Hana: 13.02.2021

Edit History

  • Rahila Mir: 22.02.2022
  • Sayeeda Hana: 16.02.2021
  • Sayeeda Hana: 13.02.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.