NM_178844.3:c.2401G>A

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  2. NM_178844.3:c.2401G>A

HGVS Expressions

  • NG_033123.1:g.31944G>A
  • NM_178844.3:c.2401G>A
  • NP_849172.2:p.Ala801Thr
  • NC_000016.10:g.3550448C>T

Associated Genes

NLR Family, Caspase Recruitment Domain-Containing 3
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

767176921

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.34Lebanon1Uncertain SignificanceFamilial Mediterranean FeverUmar et al, 2020
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Contributors

  • Sayeeda Hana: 12.02.2021

Edit History

  • Rahila Mir: 22.02.2022
  • Sayeeda Hana: 17.02.2021
  • Sayeeda Hana: 12.02.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.